Anesthesia Implications of Syndromes and Unusual Disorders

This Appendix contains brief descriptions of many common syndromes and their associated anesthetic considerations for safe pediatric anesthesia practice. Also described are some quite rare syndromes that have important anesthesia considerations. Many of these share features that make precise identification difficult, and the reader should consider all the information given in the description. Whenever possible, the referenced literature should be consulted before anesthesia is undertaken. A brief list of several excellent resources that are up-to-date follow this introduction. In some rare syndromes, the only references are in foreign language journals; we have listed these when an English abstract was appended. Very occasionally, the reference refers to the disease in adults; we still include it when no published pediatric literature was available and where we thought that the adult information provided might be useful. Space limits a complete literature review for each condition but we have attempted to list the most important and recent publications or case reports.

There are now more than 10,000 medical syndromes recorded, so it is inevitable that this list is incomplete. Genetic studies have identified many new syndromes and increased our knowledge of old ones. Although the number of syndromes has increased and existing syndromes have become better understood, anesthesiologists may still encounter unreported difficulties and complications. When in doubt as to the identity and implications of a syndrome, the anesthesiologist should make preparations that take into account all possible associated disorders.

There are a number of recurring problems associated with these syndromes that influence the choice of an anesthetic technique, predominantly difficult airway management and the management of cardiac conditions. The reader is encouraged to refer to the chapters that provide general advice on management of the difficult airway and congenital heart disease, which may be adapted to the particular syndrome presented and in accordance with the practice and experience of the anesthesiologist. Those conditions that include impaired renal function demand special care when administering radiologic contrast media. Classic descriptions of the clinical problems of a syndrome may allow the reader to decide when newer drugs and techniques can be used safely in individual cases.

Suggested Reading

  • Bissonnette B. Luginbuehl I. Marciniak B. et. al. Syndromes: rapid recognition and perioperative implications . 2006. McGraw-Hill Medical Publishing Division New York:
  • Baum V.C. O’Flaherty J.E. Anesthesia for genetic, metabolic, & dysmorphic syndromes of childhood . 2007. Lippincott, Williams & Wilkins Philadelphia:
  • Fleisher L.A. Anesthesia and uncommon diseases . 2005. Elsevier-Saunders Philadelphia:
  • Kliegman R.M. Nelson textbook of pediatrics . 2007. Elsevier-Saunders Philadelphia: Online at:

    Name Description Anesthesia Implications
    Achondroplasia Most common form of dwarfism. Defective fibro-blastic growth factor (FGFR3) at chromosome 4. Defective bone formation with decreased rate of endochondreal ossification leads to shorter tubular bones. Foramen magnum or spinal stenosis may occur. Sleep apnea may be related to brain stem compression. May need suboccipital craniectomy, laminectomy, or cerebrospinal fluid (CSF) shunts. Intubation may be difficult but usually is not. Tracheal tube size and depth of insertion are best judged by weight (not age)—most require a smaller tube than indicated by their age. Caution with neck movements—avoid excessive extension. IV access is difficult due to excess lax skin. High incidence of complications when operated on in the sitting position.
    Krishnan BS, Eipe N, Korula G: Anaesthetic management of a patient with achondroplasia. Paediatr Anaesth 13(6):547–549, 2003.
    Acrocephalopolysyndactyly See Carpenter syndrome, Saethre-Chotzen syndrome.
    Acrocephalosyndactyly See Apert syndrome.
    Adrenogenital syndrome Inability to synthesize hydrocortisone; virilization of females. All need perioperative steroid supplementation, even if not salt-losing. Preoperatively check electrolytes, ensure that supplementary corticosteroids are ordered even if anesthesia is unaccompanied by surgery (i.e., for MRI or other investigation).
    Abel M, von Petrykowski W: Perioperative substitution therapy in congenital adrenogenital syndrome with salt loss. [German-English abstract]. Anaesthesist 33(8):374–376, 1984.
    Adrenoleukodystrophy See Leukodystrophy.
    Aicardi syndrome Absent corpus callosum, chorioretinopathy and infantile spasms. Marked myotonia and drowsiness. Repeated aspiration pneumonia. Caution with muscle relaxants. No other special recommendations.
    Mayhew J: Anesthesia in a child with Aicardi syndrome. Paediatr Anaesth 17(12):1223, 2007.
    Alagille syndrome Disorder of the bile ducts with cholestasis. May have cardiac (97%), musculoskeletal (inc. vertebral), ocular, facial, and neurologic abnormalities. Variable presentation of an autosomal dominant inherited condition. Severe cases necessitate liver transplantation. Bilirubin, coagulation profile, and vitamin K level should be checked preoperatively. Hepatosplenomegaly encourages regurgitation; a rapid-sequence induction may be necessary to prevent aspiration. Caution with drugs handled by the liver. Avoid drugs that decrease hepatic blood flow (HBF); isoflurane has least effect on HBF. Maintain intravascular volume to preserve HBF. Epidural anesthesia may be preferred over opioids but check clotting state, and vertebral anatomy (check x-rays). Caution with transport and positioning; osteoporosis may be present (vitamin D deficiency)
    Choudry DK, Rehman MA, Schwartz RE, et al: The Alagille’s syndrome and its anaesthetic considerations. Paediatr Anaesth 8:79, 1998.
    Subramaniam K, Myers LB: Combined general and epidural anesthesia for a child with alagille syndrome: a case report. Paediatr Anaesth 14(9):787–791, 2004.
    Albers-Schönberg disease (marble bone disease; osteopetrosis) Disorder of osteoclasts and bone overgrowth. Infantile malignant form presents at less than 1 yr of age with failure to thrive and seizures because of hypocalcemia. Lethargy, macrocephaly, frontal bossing, obligate mouth breathing (overgrowth nasopharyngeal bone) are common. Hydrocephalus may occur. Brittle bones, pathologic fractures. Anemia from marrow sclerosis; hepatosplenomegaly. Check anemia and Ca ++ level preoperatively. Care in moving, positioning, and use of restraints. Nasal airway unreliable; may obstruct when anesthetized; prepare airways and laryngeal mask airway (LMA). N.B. Limited mobility of joints.
    Armstrong DG, Newfield JT, Gillespie R: Orthopedic management of osteopetrosis: results of a survey and review of the literature. J Ped Ortho 19(1):122–132, 1999.
    Albright-Butler syndrome Renal tubular acidosis, hypokalemia, osteomalacia, rickets, renal calculi. Treated with alkali Rx and K + supplementation. Check and correct electrolytes to normal values. Renal impairment; caution with renally excreted drugs and fluid therapy.
    Unwin RJ, Capasso G: The renal tubular acidoses. J Royal Soc Med 94(5):221–225, 2001.
    Albright hereditary osteodystrophy (pseudohypopara’ thyroidism) Ectopic bone formation, mental retardation. Hypocalcemia: possible ECG conduction defects, neuromuscular problems, convulsions. May present for cataract surgery. Preoperatively check ECG and electrolytes. Prevent hyperventilation and respiratory alkalosis (exacerbates hypocalcemia). Monitor ECG carefully for increasing Q-T interval or conduction defects. Extreme caution with muscle relaxants.
    Sunder RA, Singh M: Pseudohypoparathyroidism: a series of three cases and an unusual presentation of ocular tetany. Anaesthesia 61(4):394–398, 2006.
    Aldrich syndrome See Wiskott-Aldrich syndrome.
    Alexander disease See leukodystrophy.
    Alport syndrome Nephritis and nerve deafness; renal pathology variable. Renal failure in second to third decade. May present for renal transplantation. Use caution with drugs excreted by kidneys, Check ECG as A-V conduction defects may occur.
    Ferrari F, Nascimento P Jr, Vianna PT: Complete atrioventricular block during renal transplantation in a patient with Alport’s syndrome: case report. Sao Paulo Med J, Revista Paulista de Medicina. 119(5):184–186, 2001.
    Alström syndrome Obesity, blindness by 7 years, hearing loss, diabetes after puberty, hepatic dysfunction, and glomerulosclerosis. Decreased liver function and renal impairment. Check liver function. Diabetes and obesity require special consideration. Use caution with drugs excreted by kidneys.
    Awazu M, Tanaka T, Sato S et al: Hepatic dysfunction in two sibs with Alstrom syndrome: case report and review of the literature. Am J Med Gen 69(1):13–16, 1997.
    Amaurotic familial idiocy See Gangliosidosis GM2 (Tay-Sachs disease).
    Amyotonia congenital (infantile muscular atrophy)
    Anterior horn cell degeneration Sensitive to thiopental and propofol (due to reduced muscle mass) and respiratory depressants. Avoid muscle relaxants where possible: unpredictable response to non-depolarizing relaxants.
    Amyotrophic lateral sclerosis Degeneration of motor neurons. Progressive muscular weakness and respiratory failure. Prone to aspiration pneumonia. Check baseline ventilatory status (spirometry). Do not use succinylcholine: possible K + release and cardiac arrest. Use minimal doses of thiopental, propofol, and relaxants (cisatracurium preferred and monitor neuromuscular block.). Avoid respiratory depressants. Consider regional analgesia.
    Moser B, Lirk P, Lechner M et al: General anaesthesia in a patient with motor neuron disease. Euro J Anaesthesiol 21(11):921–923, 2004.
    Analbuminemia Extremely low level of serum albumin (4–100 mg/dl). Very sensitive to drugs that bind to protein (i.e., propofol, thiopental, pancuronium).
    Koot BGP, Houwen R, Pot DJ et al: Congenital analbuminemia biochemical and clinical implications. A case report and literature review. Eur J Pediatr 163:664–670, 2004.
    Analphalipoproteinemia See Tangier disease.
    Andersen disease (glycogen storage disease type IV) Deficiency of glucosyl transferase (brancher enzyme). Early severe hepatic cirrhosis; liver failure; splenomegaly; hemorrhagic tendency. Check coagulation factors; treat excessive bleeding with fresh-frozen plasma. Possibility of hypoglycemia under anesthesia; infuse dextrose perioperatively.
    Andersen syndrome Periodic paralysis, long Q-T interval, dysmorphic features; severe midfacial hypoplasia → relative mandibular prognathism; abnormal structure and angle of mandible (triangular facies), kyphoscoliosis. Possible airway problems; mask ventilation and intubation may be difficult. Assess respiratory status. Observe cautions for long Q-T syndrome. Avoid succinylcholine.
    Young DA: Anesthesia for the child with Andersen’s syndrome. Paediatr Anaesth 15(11):1019–1020, 2005.
    Angelman syndrome Mental retardation, craniofacial anomalies, drooling, ataxia, seizures, paroxysmal laughter, muscle atrophy. Genetic defect in maternal 15q chromosome in 75% of cases affecting GABA subunit receptors may alter response to anesthetic drugs. Vagal hypertonia. Usually uncooperative. Continue anticonvulsants. Caution with IV hypnotics (GABA Aββ ) and muscle relaxants (myopathy). Normal response to inhaled agents and opioids. Possible difficult airway. Prophylactic anticholinergic to limit vagal overactivity.
    Ramanathan KR, Muthuswamy D, Jenkins BJ: Anaesthesia for Angelman syndrome. Anaesthesia 63(6):659–661, 2008.
    Gardner JC, Turner CS, Ririe DG: Vagal hypertonia and anesthesia in Angelman syndrome. Paediatr Anaesth 18(4):348–349, 2008.
    Angioedema (hereditary angioneurotic edema) Episodic brawny edema of extremities, face, trunk, airway abdominal viscera, lasts 4 hr to 1 wk. Mutation on chromosome 11 responsible. Onset in childhood differentiates this from idiopathic form. Etiology: (1) Deficiency of C1 esterase inhibitor, reduced to 20% normal levels or (2) normal levels of dysfunctional type of C1 esterase inhibitor. Accumulation of vasoactive substances → increased vascular permeability → edema. Usually painless; may have prodromal focal tingling or “tightness.” Often induced by trauma or vibration. May have bouts of abdominal pain, diarrhea; hemoconcentration leading to hypotension, shock, pharyngeal edema (usually develops slowly). Most deaths from laryngeal edema; mortality rate up to 33%. Treatment with antifibrinolytic and hormonal agents. Check complement assay, Hct, fluid status, treatment history, previous drug reactions. Note voice change or dysphasia.
    Prophylaxis (i.e., for dental manipulation): EACA and/or fresh-frozen plasma for 1–3 days, preoperatively. Continue EACA IV perioperatively and postoperatively. Danazol (androgen) is useful.
    Acute attack: epinephrine, steroids, antihistamine (in case diagnosis is a true anaphylaxis), fresh-frozen plasma or purified C1 inhibitor.
    If pharyngeal edema develops: tracheal intubation (leave in place for 24–72 hr); if this is not possible, perform tracheotomy.
    Regional anesthesia when possible. Otherwise, extreme care when instrumenting airway.
    Preoperatively and postoperatively: monitor vital signs.
    Wall RT, Frank M, Hahn M: A review of 25 patients with hereditary angioedema requiring surgery. Anesthesiology 71(2):309–311, 1989.
    Angio-osteohypertrophy See Klippel-Trénaunay-Weber syndrome.
    Anhidrotic ectodermal dysplasia See Christ-Siemens-Touraine syndrome.
    Antley-Bixler syndrome Recessive condition with bony and cartilaginous abnormalities: craniosynostosis, midface hypoplasia, choanal atresia, and joint contractures. May have cardiac, gastrointestinal, and renal abnormalities.
    Respiratory obstruction may require early intervention (including tracheostomy). Need major cranial surgery in neonates to relieve craniosynostosis.
    Potential respiratory problems and difficult intubation. Care with positioning. Extremity deformities may preclude easy vascular access.
    Boswell D, Mayhew J: Anesthesia for an infant with Antley-Bixler syndrome. Paediatr Anaesth 17(5):497–498, 2007.
    Apert syndrome (acrocephalosyndactyly) Mental retardation. Hypoplastic maxilla and exophthalmos. Craniosynostosis, possibly with increased ICP; fused cervical vertebrae. Trachea may be narrow with fused rings (“Bamboo trachea”) CHD may be present. Mask anesthesia may be difficult; orotracheal intubation is almost always easy. Nasotracheal intubation may be difficult because of narrowed nasal passages. ICP may be increased. High incidence of respiratory complications— caution if history of recent URI.
    Elwood T, Sarathy PV, Geiduschek JM et al: Respiratory complications during anaesthesia in Apert syndrome. Paediatr Anaesth 11(6):701–703, 2001.
    Arachnodactyly See Marfan syndrome.
    Arima syndrome Malformation of the brain stem with congenital amaurosis and psychomotor retardation. Renal dysfunction or failure because of polycystic kidneys. May also have hepatic failure. Preoperatively check serum electrolytes if chronic renal failure present. Caution with renally excreted drugs. Hyperkalemia during surgery can produce ECG changes necessitating treatment.
    Koizuka S, Nishikawa K-I, Nemoto H et al: Intraoperative QRS-interval changes caused by hyperkalaemia in an infant with Arima syndrome. Paediatr Anaesth 8:425, 1998.
    Arthrogryposis multiplex Multiple congenital contractures, stiffness of joints; CHD in about 10% of cases. Intraoperative hypermetabolism and hyperthermia may occur but without classic biochemical or genetic markers for MH. Minimal thiopental/propofol required-muscles replaced by fat. Sensitivity to nondepolarizing muscle relaxants. Difficult intubation and airway problem because of limitation of temporomandibular movement. Tachycardia and increase in body temperature often observed for unclear reasons. (Not prone to MH). Monitor body temperature and be prepared for cooling measures.
    Kanaya N, Nakayama M, Nakae Y et al: Hyperthermia during sevoflurane anaesthesia in arthrogryposis multiplex congenita with central nervous system dysfunction. Paediatr Anaesth 6(5):428–429, 1996.
    Asplenia syndrome Absent spleen; malposition of abdominal organs. Very complex cardiovascular anomalies (i.e., single ventricle); cyanosis and heart failure in many cases. Increased susceptibility to overwhelming infection. Assess cardiovascular status including preoperative echocardiogram; SBE prophylaxis if indicated; use sterile technique, reverse isolation. Do not use cardiodepressants; ketamine, midazolam, and fentanyl recommended.
    Uchida K, Ando T, Okuda C et al: Anesthetic management of an infant with a single ventricle (asplenia syndrome) for non-cardiac surgery. [Japanese] English abstract. Masui – Jap J Anesth 41(11):1793–1797, 1992.
    Ataxia telangiectasia Cerebellar ataxia, skin and conjunctival telangiectasia; decreased serum IgA or IgE. Defective immunity → recurrent pulmonary and sinus infections; bronchiectasis. Severe anemia may be present. RES malignancy in about 10% of cases. Check Hb and Hct levels and pulmonary function if indicated. Treat anemia. Use antibiotic prophylaxis if indicated. Use sterile technique (reverse isolation).
    Peterson RDA, Good RA: Ataxia-telangiectasia. Birth Defects 4:370, 1968.
    Bardet-Biedl syndrome Mental retardation, pigmentary retinopathy, polydactyly, obesity, hypogenitalism, diabetes, and hypertension. (Spastic paraplegia, typical in Laurence-Moon syndrome, is absent.) May have renal abnormalities and congenital heart defects. Assess cardiac status (echocardiogram), renal (BUN/creatinine), endocrine, and fluid status. SBE prophylaxis if indicated. Use contrast material with caution.
    Bauman ML, Hogan GR: Laurence-Moon-Biedl syndrome. Am J Dis Child 126:119, 1973.
    Bartter syndrome Hypokalemic, hypochloremic metabolic alkalosis. Normotensive but hypovolemic. Chloride reabsorption defect with urinary potassium loss. Juxtaglomerular cell hyperplasia, hyperaldosteronism, prostaglandin overproduction and activation of the rennin angiotensin aldosterone system. Check acid-base status: electrolyte abnormalities difficult to correct. Hemodynamic instability; invasive monitoring is recommended. Careful attention to electrolytes and volume status. Regional anesthesia is suitable.
    Kannan S, Delph Y, and Moseley HSL: Anaesthetic management of a child with Bartter’s syndrome. Can J Anaesth 42:808, 1995.
    Beare-Stevenson syndrome Craniosynostosis with clover-leaf skull, hydrocephalus, proptosis, choanal atresia, cleft palate, cutis gyratum, and abnormal genitalia. Associated cervical spine and foramen magnum abnormalities. Airway maintenance and intubation may be very difficult. IV access may be complicated by skin changes. Caution with neck movement. Protect the eyes by lubricating and closing (with tape) or protecting (with eye shield). Monitor ventilation postoperatively.
    Upmeyer S, Bothwell M, Tobias JD: Perioperative care of a patient with Beare-Stevenson syndrome. Paediatr Anaesth 15(12):1131–1136, 2005.
    Becker syndrome See Duchenne muscular dystrophy.
    Beckwith syndrome (Beckwith-Wiedemann syndrome, infantile gigantism) Rare disease caused by genetic defect with variable inheritance patterns. Birth weight greater than 4000 g, macroglossia, and exophthalmos. Omphalocele, visceromegaly, hyperviscosity syndrome, umbilical hernias and hypoglycemia are common (See Neonatal hypoglycemia) Cleft palate may be associated, and if this is repaired tongue reduction should be performed or severe airway obstruction may occur. Airway problems and difficult intubation because of large tongue. Trachea may be large for age – use a cuffed tube. Monitor blood glucose carefully and treat hypoglycemia by slow infusion of dextrose (bolus dose may cause rebound hypoglycemia). Nasopharyngeal airway useful for postoperative airway obstruction. May require phlebotomy to reduce high hematocrit.
    Suan C, Ojeda R, Garcia-Perla JL et al: Anaesthesia and the Beckwith-Wiedemann syndrome. Paediatr Anaesth 6:231, 1996.
    Kimura Y, Kamada Y, Kimura S et al: Anesthetic management of two cases of Beckwith-Wiedemann syndrome. J Anesth 22(1):93–95, 2008.
    Behçet syndrome Gross ulceration of mouth (usually first sign; may extend to esophagus) and genital area; uveitis, iritis, conjunctivitis, skin lesions, nonerosive arthritis. May have vasculitis, myocardial, and CNS involvement; risk of sepsis at sites of skin punctures, etc. Preoperative echocardiogram and ECG to rule out cardiac involvement. Use sterile technique. May have history of steroid therapy; nutritional status may be very poor. Tracheal intubation may be very difficult because of scarring in pharynx.
    Turner ME: Anaesthetic difficulties associated with Behçet’s syndrome. Br J Anaesth 44:100, 1972.
    Binder syndrome Maxillonasal dysplasia; if severe, may be corrected surgically. Advancement of maxilla and wiring of maxilla and mandible may cause airway problems perioperatively and postoperatively.
    Henderson D, Jackson IT: Naso-maxillary hypoplasia-the Fort II osteotomy. Br J Oral Surg 11:77, 1973.
    Blackfan-Diamond syndrome Congenital idiopathic RBC aplasia. Liver and spleen enlarged: hypersplenism, thrombocytopenia. Treatment with steroids and repeated transfusions; hemochromatosis may develop. Bone marrow transplant may be successful. Increased incidence of malignancy (leukemia). Coagulation studies preoperatively; treat anemia and have platelets available. Give additional steroids. Considerations of hemachromatosis.
    Bland-White-Garland syndrome Coronary artery malformation with left coronary arising from the pulmonary trunk. Myocardial ischemia leading to acute heart failure. Lethal if not corrected early. Preoperative echocardiogram. Anesthesia as for coronary artery disease. Left ventricular dysfunction may require aggressive therapy to wean from CPB.
    Kleinschmidt S, Grueness V, Molter G: The Bland-White-Garland syndrome: clinical picture and anaesthesiological management. Paediatr Anaesth 6:65, 1996.
    Bowen syndrome See cerebrohepatorenal syndrome.
    Brachmann-de Lange syndrome Mental retardation with craniofacial, cardiac and GI malformations, hirsutism and strabismus. Gastroesophageal reflux and aspiration leads to frequent pulmonary infections. Preoperative echocardiogram, check pulmonary status, anticipate difficult airway and intubation. SBE prophylaxis if indicated.
    Fernandez-Garcia R, Perez Mencia T, Gutierrez-Jodra A et al: Anesthetic management with laryngeal mask in a child with Brachmann-de Lange syndrome. Paediatr Anaesth 16(6):698–700, 2006.
    Branchio-Oto-Renal (BOR) syndrome (Melnick-Fraser syndrome) Branchial cysts or fistulae, hearing loss, pre-auricular pits, external ear malformations, renal abnormalities. Monitor heart rate carefully. Episodic bradycardia requiring atropine or epinephrine treatment may occur during sevoflurane administration.
    Taylor MH, Wilton NC: Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome. Paediatr Anaesth 17(1):80–83, 2007.
    Brugada syndrome Rare in Occidentals but more common in SE Asia. Results from Na + channel defect in the myocardium. ST segment elevation in precordial leads and incomplete RBB with anatomically normal heart. Prone to V tach & VF. Avoid parasympathetic stimulation (Give anticholinergic, caution with reversal agents), caution with drugs that affect Na + channels (Local analgesics). Thiopental/propofol and inhaled agents probably OK. Maintain normothermia. Apply defibrillator pads intra-op. Monitor ECG postoperatively.
    Baty L, Hollister J, Tobias JD: Perioperative management of a 7-year-old child with Brugada syndrome. J Intens Care Med 23(3):210–214, 2008.
    Canavan disease See leukodystrophy.
    Cantrell pentalogy Defect in the recti muscles of the abdominal wall above the umbilicus, agenesis of sternum and diaphragm, pericardial defect and cardiac malformations: cardiac septal and valvular defects present. Prone to develop severe respiratory distress. Preoperative echocardiogram, monitor for arrhythmias. Caudal epidural anesthesia during general anesthesia for noncardiac surgery has been employed successfully.
    Laloyaux P, Veyckemans F, Van Dyck M: Anaesthetic management of a prematurely born infant with Cantrell’s pentalogy. Paediatr Anaesth 8:163, 1998.
    Capillary angioma with thrombocytopenic purpura syndrome See Kasabach-Merritt syndrome.
    Carcinoid tumors Carcinoid tumors (secrete vasoactive peptides) are more common in adults but may occur in children, often in the appendix but also at other sites (i.e., testis, bronchus, GI tract). Usually the diagnosis is made at histology. Carcinoid syndrome (flushing, hypotension, etc.) is very rare in children but may occur especially with malignant carcinoid tumors. Slow stress-free induction and maintenance of anesthesia. Avoid drugs that stimulate the sympathetic system (i.e., ketamine) or release histamine (morphine, atracurium, meperidine). H 1 and H 2 blockers and ondansetron may be useful to prevent a crisis.
    Vaughan DJ, Brunner MD: Anesthesia for patients with carcinoid syndrome. Int Anesth Clin 35(4):129–142, 1997.
    Cardioauditory syndrome See Jervell-Lange-Nielsen syndrome.
    Carpenter syndrome (acrocephalopolysyndactyly) Obesity, mental retardation, oxycephaly, peculiar facies, syndactyly, deformed extremities, CHD, hypogenitalism. Preoperative echocardiogram, SBE prophylaxis if indicated. Hypoplastic mandible may make intubation difficult.
    Davies DW, Munro IR: The anesthetic management and intraoperative care of patients undergoing major facial osteotomies. Plast Reconstr Surg 55:50, 1975.
    Central core disease Muscular dystrophy; hypotonia without muscle wasting. Increased risk of malignant hyperthermia. Preoperatively, assess respiratory status carefully. Sensitive to thiopental, propofol, and respiratory depressants: use muscle relaxants with caution (postoperative ventilation may be required). Do not use succinylcholine. Do not give drugs that might trigger malignant hyperthermia (See page 197 ).
    Eng GD, Epstein BS, Engel WK et al: Malignant hyperthermia and central-core disease in a child with congenital dislocating hips. Arch Neurol 35:189, 1978.
    Cerebrohepatorenal syndrome (Bowen syndrome, Zellweger syndrome) Neonatal jaundice, hepatomegaly, polycystic kidneys, muscular hypotonia, coagulopathy, and mentalretardation. CHD may be present. Hypotonia and gastroesophageal reflux predisposes to recurrent pneumonia. Assess pulmonary status carefully. Treat hypoprothrombinemia, fresh-frozen plasma may decreasesurgical bleeding. Drug metabolism is impaired; use small doses, extreme care with muscle relaxants and other drugs excreted by kidneys.
    Platis CM, Kachko L, Peled E et al: Anesthesia for the child with Zellweger syndrome: a case report. Paediatr Anaesth 16(3):361–262, 2006.
    Catch 22 syndrome See DiGeorge syndrome.
    Charcot-Marie-Tooth syndrome (peroneal muscular atrophy) Hereditary polyneuropathy. Muscle weakness in legs and arms. Cardiac involvement: arrhythmias, conduction defects, cardiomyopathy. MH has been described in two patients with CMT syndrome; however, a relationship is not established and is very doubtful. Responses to nondepolarizing muscle relaxants are usually normal. 54 MH triggering agents have been used in many patients without problems.
    Antognini JF: Anaesthesia for Charcot-Marie-Tooth disease: a review of 86 cases. Can J Anaesth 39(4):398–400, 1992.
    CHARGE association An association of Coloboma, congenital Heart disease, choanal Atresia, Renal abnormalities, Genital hypoplasia, and Ear defects. Difficult airway and intubation, possible impaired renal function. Difficulty with tracheal intubation increases with age.
    Stack CG, Wyse RK: Incidence and management of airway problems in the CHARGE association. Anaesthesia 46:582, 1991.
    Chédiak-Higashi syndrome Disorder of neutrophil function, histiocyte infiltration of multiple organs. Partial albinism, immunodeficiency,pancytopenia, hepatosplenomegaly, recurrent bacterial infections. Neurologic disorders and mental retardation. Steroid therapy and cytotoxic drugs may be given to induce remission. Use sterile technique (reverse isolation). Use disposable equipment. Repeated pulmonary infections may have impaired pulmonary function. Aggressive therapy to prevent postoperative complications is required. Give supplemental steroids. Thrombocytopenia may require platelet transfusions.
    Ulsoy H, Erciyes N, Ovali E et al: Anesthesia in Che’diak-Higashi syndrome—case report. Mid East J Anesth 13(1):101–105, 1995.
    Cherubism Fibrous dysplasia of mandibles and maxillas with intraoral masses may cause respiratory distress. Tracheal intubation may be extremely difficult; if there is acute respiratory distress, tracheotomy may be required. Profuse bleeding may occur during surgery of the disease mass.
    Monclus E, Garces A, Artes D et al: Oral to nasal tube exchange under fibroscopic view: a new technique for nasal intubation in a predicted difficult airway. Paediatr Anaesth 18(7):663–666, 2008.
    Chotzen syndrome Craniosynostosis; associated renal anomalies. Airway and tracheal intubation may be difficult. Renal excretion of drugs may be impaired.
    Easely D, Mayhew JF: Anesthesia in a child with Saethre-Chotzen syndrome. Paediatr Anaesth 18(1):81, 2008.
    Christ-Siemens-Touraine syndrome (anhidrotic ectodermal dysplasia) Absence of sweating and tearing. Heat intolerance due to inability to control temperature by sweating.
    Poor mucus formation → persistent respiratory infections.
    Hypoplastic mandible may make tracheal intubation difficult; monitor body temperature carefullyand be prepared to institute cooling. Humidify inspired gases. Tape eyes closed. Use chest physiotherapy preoperatively and postoperatively.
    Hotta M, Koitabashi T, Umemura N et al: Anesthetic management of a patient with hypohidrotic ectodermal dysplasia. [Japanese] English abstract. Masui – Jap J Anesth 49(4):414–416, 2000.
    Chronic granulomatous disease Inherited disorder of leukocyte function: recurrent infections with nonpathogenic organisms (Bacteria or fungi) and disordered inflammation. Poor pulmonary function. Multiple organ system involvement. Hepatomegaly in 95% of cases, advanced liver disease leads to portal hypertension. Thrombocytopenia may be present. GI lesions predispose to regurgitation and aspiration. Bone marrow transplant may be effective therapy. Assess respiratory status carefully. Check coagulation. Use sterile technique (reverse isolation). Consider rapid sequence induction. Caution with drugs metabolized in the liver.
    Wall RT, Buzzanell CA, Epstein TA et al: Anesthetic considerations in patients with chronic granulomatous disease. J ClinAnesth 2(5):306–311, 1990.
    Chubby puffer syndrome See also sleep apnea syndromes. Obesity, upper airway obstruction, daytime somnolence, and respiratory distress when sleeping. May be hyperactive and aggressive. Blood gases may show hypoxemia and hypercapnia. Cor pulmonale may develop. May present for tonsillectomy. Avoid preoperative sedation. Monitor carefully postoperatively for airway obstruction (Nasal CPAP may help). Extreme caution with opioids; sensitivity has been demonstrated. Titrate one third to one half the normal dose of opioid. Low dose ketamine may be useful for analgesia. Those with severe airway obstruction may require tracheostomy. Postoperative monitoring is essential. Do not send home the same day of surgery unless observed for 6 or more hours.
    Stool SE, Eavey RD, Stein NL et al: The chubby puffer syndrome: upper airway obstruction and obesity, with intermittent somnolence and cardiorespiratory embarrassment. Clin Pediatr 16:43, 1977.
    CINCA syndrome Chronic infantile neurologic cutaneous articular syndrome. Genetic autoinflammatory syndrome characterized by repeated attacks of fever and skin and joint inflammation starting in infancy.
    Progressive mental retardation and muscle wasting may occur. Facial dysmorphia may be associated.
    Concern that stress of anesthesia and surgery may exacerbate inflammatory state. TIVA with propofol and remifentanil recommended on this basis. Caution with relaxant drugs. Potential difficult tracheal intubation.
    Hohne C, Burkhardt U: Anesthesia in an infant with a CINCA syndrome. Paediatr Anaesth 18(6):575–577, 2008.
    Cockayne syndrome Dysmorphic dwarfism, mental retardation, and premature senescence; patients present in early childhood. Prominent maxillae, large teeth, and sunken eyes. Ataxia, peripheral neuropathy, and flexion contractures. Associated hypertension, arteriosclerosis, and renal disease. Survival beyond second decade is unusual. Difficult tracheal intubation; use of the LMA before fiberoptic intubation may be required. Subglottic stenosis; require a small-diameter tube (weight vs. age appropriate). May be difficult to position. Considerations of associated cardiovascular and renal disease. A preoperative ECG for evidence of myocardial ischemia/infarction may be indicated.
    Raghavendran S, Brown KA, Buu N: Perioperative management of patients with Cockayne syndrome—recognition of accelerated aging with growth arrest. Paediatr Anaesth 18(4):360–361, 2008.
    Collagen diseases (dermatomyositis; polyarteritis nodosa; rheumatoid arthritis; systemic lupus erythematosus) Systemic connective tissue diseases with variable systemic involvement. Osteoporosis, fatty infiltration of muscle, anemia, pulmonary infiltration with fibrosis. Renal involvement common. Frequently receiving steroid therapy. Temporomandibular or cricoarytenoid arthritis may cause airway and intubation difficulties. Risk of fat embolism after osteotomy, fracture, or minor trauma. Supplement steroid therapy.
    Smith BL: Anaesthesia for patients with juvenile chronic arthritis (Still’s disease) Anaesthesia 53(3):314, 1998.
    Congenital heart block Comprises less than 1% of congenital heart disease, may be associated with other CHD lesions. Defect of conduction between atrioventricular node and bundle of His, or within bundle of His. Supraventricular arrhythmias may occur, and up to 20% progress to congestive heart failure and Stokes-Adams attacks. Heart rates less than 55 are poorly tolerated by infants and the response to chronotropic drugs is usually minimal. Preoperative consultation with the cardiology team is highly recommended. Because of possibility of intraoperative arrhythmia or increased atrioventricular block, preoperative insertion of a temporary transvenous pacemaker is usually recommended, this may be achieved via the umbilical vein in the neonate. Alternatively, transcutaneous pacing via pads may be considered. Transesophageal pacing is often not effective in infants. Sevoflurane may be useful for anesthesia as it tends to increase heart rate.
    Kussman BD, Madril DR, Thiagarajan RR et al: Anesthetic management of the neonate with congenital complete heart block: a 16-year review. Paediatr Anaesth 15(12):1059–1066, 2005.
    Congenital Insensitivity to Pain and Anhidrosis (CIPA) Rare autosomal recessive disorder due to deficient nerve growth factor. Insensitivity to pain and temperature, lack of sweating, and possible mental retardation. Hyperpyrexia may occur. Anesthesia is required for surgical procedures to block tactile hyperesthesia and unpleasant sensations. The use of the BIS monitor may prevent excessive doses. Careful monitoring of body temperature and maintenance of normothermia required. Avoidance of anticholinergics not essential.
    Brandes IF, Stuth EA: Use of BIS monitor in a child with congenital insensitivity to pain with anhidrosis. Paediatr Anaesth 16(4):466–470, 2006.
    Conradi syndrome (chondrodysplasia epiphysealis punctata; chondrodysplasia calcificans congenita; koala bear syndrome) Chondrodystrophy with contractures, saddle nose, macroencephaly or microcephaly, mental retardation, dwarfing, congenital cataracts. CHD and renal anomalies in some other cases.
    Tasker WG, Mastri AR, Gold AP: Chondrodystrophia calcificans congenita (dysplasia epiphysealis punctata): recognition of the clinical picture. Am J Dis Child 119:122, 1970.
    Cori disease See von Gierke disease.
    Cornelia de Lange syndrome Short stature, microcephaly, mental retardation, hirsute. Short or dysmorphic extremities, hypoplastic nipples, rib and sternal defect. Low hairline, thin lips,and downturned (“cod”) mouth. Cry is low-pitched growl. CHD in 30%. Pulmonary aspiration is common, susceptible to infections (immune system defect). Care with asepsis. Intubation may be difficult, and airway obstruction develops easily.
    Tsusaki B, Mayhew JF: Anaesthetic implications of Cornelia de Lange syndrome. Paediatr Anaesth 8(2):181, 1998.
    Costello syndrome Mental retardation and delayed growth, coarse facies, redundant skin (neck, palms, soles) and papillomata (oral, nasal, anal). Cardiac involvement is common. CHD in 30%, hypertrophic cardiomyopathy in 20%. Endocrine problems include hypopituitarism, hypothyroid and hypoadrenal states. Hypoglycemia may occur. Potential airway problems include short neck, choanal atresia, macroglossia, and laryngeal papillomata. Check endocrine status. Caution with airway; monitor postoperative ventilation carefully. Monitor blood glucose during long procedures.
    Katcher K, Bothwell M, Tobias JD: Anaesthetic implications of Costello syndrome. Paediatr Anaesth 13(3): 257–262, 2003.
    Cretinism (congenital hypothyroidism) Goiter; hypothyroidism secondary to defective synthesis of thyroid hormone. Large tongue. Respiratory center very sensitive to depression; CO 2 retention common. Hypoglycemia, hyponatremia, hypotension, low cardiac output. Early treatment with levothyroxine is essential to prevent mental changes. Correct hypothyroidism and anemia preoperatively if possible. Intravenous triiodothyronine may be useful. Airway problems due to large tongue. Monitor body temperature; use forced hot air warming blankets. Do not use myocardial depressants. Transfuse carefully; overtransfusion is poorly tolerated because of decreased myocardial contractility.
    Mason KP, Koka BV, Eldredge EA et al: Perioperative considerations in a hypothyroid infant with hepatic haemangioma. Paediatr Anaesth 11(2):228–232, 2001.
    Cri du chat syndrome Chromosome 5p abnormality causing mental retardation, abnormal catlike cry, microcephaly, round face, hypertelorism. In some, ears abnormal, micrognathia, epiglottis and larynx small. CHD may be present. Airway problems: stridor, laryngomalacia. Tracheal intubation may be difficult; small size tube may be required. Risk of postextubation croup.
    Brislin RP, Stayer SA, Schwartz RE: Anaesthetic considerations for the patient with cri du chat syndrome. Paediatr Anaesth 5(2):139–141, 1995.
    Crouzon syndrome Craniosynostosis, hypertelorism, parrot beak nose, hypoplastic maxilla, and exophthalmos because of chromosomal bony defect causing premature closure of cranial sutures and intracranial hypertension. Eye protection important. Mask ventilation difficult, requires jaw thrust ± oral airway. Tracheal intubation usually quite easy. Postoperative airway obstruction is common; elective tracheostomy may be indicated. Beware of additional airway problems related to external fixation devices postsurgery for maxillary distraction; may limit access to the mouth, lead to trismus.
    Payne JF, Cranston AJ: Postoperative airway problems in a child with Crouzon’s syndrome. Paediatr Anaesth 5:331, 1995.
    Cutis laxa Elastic fiber degeneration: pendulous skin, frequent hernias. Recurrent pulmonary infections, emphysema and cor pulmonale, arterial fragility. Assess pulmonary status carefully. Use sterile technique. Difficulty maintaining IV line due to poor tissues. Excess soft tissues around larynx may cause upper airway obstruction.
    Wooley MM, Morgan S, Hays DM: Heritable disorders of connective tissue: surgical and anesthetic problems. J Pediatr Surg 2:325, 1967.
    Dandy-Walker syndrome See hydrocephalus ( page 246 ).
    Deletion 9p syndrome Partial deletion of short arm of chromosome 9 is associated with mental retardation, trigonocephaly, dysmorphic facies, small mouth, cleft palate, choanal stenosis, cardiac and renal disease. Gastroesophageal reflux and aspiration leading to repeated pulmonary infections. Difficult airway and intubation; smaller diameter endotracheal tube may be required. Use short-acting drugs for rapid recovery of airway reflexes.
    Cakmakkaya OS, Bakan M, Altintas F et al: Anesthetic management in a child with deletion 9p syndrome. Paediatr Anaesth 17(1):88–89, 2007.
    Dermatomyositis See collagen disease.
    Yotsui-Tsuchimochi H, Higa K, Matsunaga M et al: Anesthetic management of a child with chromosome 22q11 deletion syndrome. Paediatr Anaesth 16(4): 454–7, 2006.
    Passariello M, Perkins R: Unexpected postoperative tachycardia in a patient with 22q11 deletion syndrome after multiple dental extractions. Paediatr Anaesth 15(12):1145–1146, 2005.
    DiGeorge syndrome (Catch 22 syndrome, deletion 22q syndrome, third and fourth brachial arch/pharyngeal pouch syndrome) Aortic arch abnormalities. Thymus and parathyroids absent, hypoparathyroidism, low serum Ca resulting in tetany and stridor. Often associated with chromosome 22 defect. Immune deficiency: susceptibility to fungal and viral infections; recurrent chest infections. Treated by thymic transplants. Use sterile technique (reverse isolation). Donor blood must be previously irradiated (30 Gy) to prevent graft-versus-host reaction. Check calcium levels-Ca ++ infusion may be required. Caution with epinephrine containing local analgesics, prolonged tachycardia has been reported.
    Yotsui-Tsuchimochi H, Higa K, Matsunaga M et al: Anesthetic management of a child with chromosome 22q11 deletion syndrome. Paediatr Anaesth 16(4): 454–7, 2006.
    Passariello M, Perkins R: Unexpected postoperative tachycardia in a patient with 22q11 deletion syndrome after multiple dental extractions. Paediatr Anaesth 15(12):1145–1146, 2005.
    Donohue syndrome See leprechaunism.
    Down syndrome (See page 196 ).
    Duchenne muscular dystrophy Progressive pseudohypertrophy of muscles with cardiomyopathy in most cases. Predominantly occurs in males; a milder form, Becker syndrome, also occurs in females. Genetic cause: X-linked recessive mutation in dystrophin gene at chromosome 21. May be subclinical until 2–6 yr and many die before 20 yr of age. Assess cardiac status particularly in adolescents (preoperative echocardiogram). Succinylcholine contraindicated (may cause hyperkalemic cardiac arrest). DMD may be undiagnosed in infancy, leading to recommendation to avoid succinylcholine in boys less than 6 yr of age. Inhalational agents may cause rhabdomyolysis; TIVA is preferred by some. Respiratory depression occurs easily: titrate drug dosage carefully to limit cardiorespiratory depression. Give nondepolarizing muscle relaxants carefully and monitor block. Use local analgesia whenever possible. IPPV support postoperatively.
    Yemen TA, McClain C. Muscular dystrophy, anesthesia and the safety of inhalational agents revisited; again. [Editorial] Paediatr Anaesth 16(2):105–108, 2006.
    Sethna NF, Rockoff MA, Wonhen HM et al: Anesthesia related complications in children with Duchenne muscular dystrophy. Anesthesiology 68:462, 1988.
    Dutch-Kentucky syndrome See Trismus-pseudocamptodactyly.
    EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip and palate) Congenital anomaly complex. Lobster claw deformity, dysplasia of all ectodermal elements (including central nervous system), with disordered temperature control (hypohidrosis plus central defect). Decreased tearing, conjunctivitis, blepharitis. Cleft lip and palate, respiratory tract infections, genitourinary anomalies, malnutrition, and anemia. Mental retardation in 8%. Assess nutrition and anemia. Preoperative chest physiotherapy advised; avoid anticholinergics (i.e., atropine [effect on sweating]). Extreme care with skin required; position and pad carefully. Protect eyes. Tracheal intubation may be difficult with cleft palate. Be prepared to maintain normothermia using heating/cooling blankets, etc.
    Mizushima A, Satoyoshi M: Anaesthetic problems in a child with ectrodactyly, ectodermal dysplasia and cleft lip palate: the EEC syndrome. Anaesthesia 47:137, 1992.
    Edwards syndrome (trisomy 18[E]) Mental retardation and dysmorphic changes, micrognathia in 80%, hypotonia. CHD in 95%, renal malformations in 50%-80%. Most die in infancy. Airway and tracheal intubation may be difficult; succinylcholine may cause muscle rigidity. Use caution with drugs excreted by kidney.
    Courreges P, Nieuviarts R, Lecoutre D: Anaesthetic management for Edward’s syndrome. Paediatr Anaesth 13(3):267–269, 2003.
    Ehlers-Danlos syndrome (cutis hyperelastica) Collagen abnormality: hyperelasticity and fragile tissues; dissecting aneurysm of aorta, fragility of other blood vessels: ECG conduction abnormalities. Bleeding diathesis; hernias. May have heart, lung, and gastrointestinal malformations. Difficult to maintain IV line and prevent complications of IV infusions. Poor tissues and clotting defect may lead to increased surgical bleeding. Spontaneous pneumothorax may occur. Monitor for ECG conduction abnormalities. Caution with neck movement. Neuraxial anesthesia relatively contraindicated (risk of bleeding).
    Lane D: Anaesthetic implications of vascular type Ehlers-Danlos syndrome. Anaesth Intens Care 34(4):501–505, 2006.
    Eisenmenger syndrome Association of high pulmonary vascular resistance (pulmonary hypertension), and an intracardiac or extracardiac R-L shunt. Dyspnea, fatigue, cyanosis, finger clubbing, and cardiac failure. Often associated with Down syndrome. Assess severity of R-L cardiac shunt; shunt may increase with hypoxia, hypercarbia, or acidosis. Inhalation induction with halothane has been effective. Alternately, a slow intravenous induction may be performed as rapid effect from IV agents may occur. Avoid drugs or airway events that may increase PVR (i.e., N 2 O, hypercarbia, hypoxemia, acidosis) or decrease SVR (i.e., high dose thiopental or propofol, SNP) significantly. Caution with IPPV to maintain lung volume but minimize intrathoracic pressure. Care with fluid therapy, hypovolemia is not well-tolerated, overtransfusion may lead to R ventricular failure. Polycythemia increases viscosity but caution required if hemodiluting as it decreases oxygen carrying capacity.
    Despite all the potential problems, many children tolerate a well-conducted anesthetic. Epidural anesthesia has been used successfully.
    Lyons B, Motherway C, Casey W et al: The anaesthetic management of the child with Eisenmenger’s syndrome. Can J Anaesth 42:904, 1995.
    Elfin facies syndrome See Williams syndrome.
    Ellis-van Creveld syndrome (chondroectodermal/ mesoectodermal dysplasia) Ectodermal defects causing skeletal dwarfism, cardiac anomalies (50%), chest wall defects, and poor lung function. Short limbs, polydactyly, and hypoplastic nails. May have abnormal maxillae, cleft palate, cleft lip, hepatosplenomegaly. Patients often die in infancy. Tracheal intubation can be routine, but airway problems may make intubation difficult; assess carefully and be prepared.
    Wu CL, Litman RS: Anaesthetic management for a child with the Ellis-van Creveld syndrome: a case report. Paediatr Anaesth 4:335, 1994.
    Eosinophilic granuloma See Histiocytosis X.
    Epidermolysis bullosa (Herlitz syndrome)

    • Skin cleavage at dermal-epidermal junction, resulting in erosions and blisters from minor trauma to skin or mucous membrane. The disease occurs in several forms:

    • Simplex: Dominant, maps to chromosome 17. Relatively mild with rapid healing and little scarring.

    • Lethalis: Recessive, maps to chromosome 12. Junctional epidermolysis bullosa. Severe, presents at birth, leads to extensive scarring and death (often from sepsis) usually before 2 yr of age.

    • Dystrophic: Recessive, maps to chromosome 12. Very rare but severe; lesions heal slowly with extensive scarring. Strictures may form and involve the pharynx, larynx, and esophagus. Digital fusion occurs (“mitten hand”). Nutritional deprivation leads to growth retardation and anemia. Infections are common.

    Antibiotic prophylaxis perioperatively to prevent secondary infections. Check history of steroid therapy. Use sterile technique (reverse isolation). Airway difficulty: oral lesions, adhesion of tongue, intraoral scarring; avoid tracheal intubation and/or instrumentation of the airway if possible as bullas may develop; otherwise, lubricate tube and laryngoscope generously. Prevent trauma to skin or mucous membranes, especially from friction or shearing movements. Use very generous lubricated padding. Use insufflation or a well padded and lubricated mask for inhalation anesthesia or use propofol or ketamine. Care with a tourniquet. Do not tape eyelids shut (skin may slough), use optical ointment. Avoid adhesive tapes (patients/parents often know which, if any, tapes can be tolerated); an oximeter probe may be held in place with a lubricated gauze bandage. ECG pads should be coated with surgical lubricant and placed under the child. Regional analgesia may be appropriate for limb surgery.
    Herod J, Denyer J, Goldman A et al: Epidermolysis bullosa in children: pathophysiology, anaesthesia and pain management. Paediatr Anaesth 12(5):388–397, 2002.
    Cakmakkaya OS, Altindas F, Kaya G: Anesthesia in children with epidermolysis bullosa. Plastic Reconstruct Surg 122(1):34e-35e, 2008.
    Erythema multiforme See Stevens-Johnson syndrome.
    Eulenburg periodic paralysis See paramyotonia congenita.
    Escobar syndrome (Multiple pterygium syndrome) Autosomal recessive progressive disease; multiple joint contractures, facial and genital anomalies, severe kyphoscoliosis. Normal intellect. Difficult airway and intubation—difficulties increase with age. IV access may be limited. Caution with padding and positioning. Epidural analgesia may be appropriate despite deformity.
    Kuzma PJ, Calkins MD, Kline MD et al. The anesthetic management of patients with multiple pterygium syndrome. Anesth Analg 83:430–432, 1996.
    Kachko L, Platis CM, Konen O et al: Lumbar epidural anesthesia for the child with Escobar syndrome. Paediatr Anaesth 16(6):700–702, 2006.
    Fabry disease (angiokeratoma corporis diffusum) X-linked lipid storage disorder. Lipid deposition in blood vessels causes periodic very severe pain and fever crises. Corneal opacities. Dark telangiectasia, particularly around genitals and buttocks; hypertension, myocardial ischemia, renal failure. Hypertension and myocardial ischemia. Preoperative echocardiogram for myocardial function; ECG for myocardial ischemia; BUN and creatinine for renal function; caution with drugs excreted by the kidneys if renal dysfunction is present.
    Wise D, Wallace HJ, Jellinek EH: Angiokeratoma corporis diffusum. Queensland J Med 31:177, 1962.
    Familial dysautonomia See Riley-Day syndrome.
    Familial osteodysplasia See Andersen syndrome.
    Familial periodic paralysis Periodic muscle weakness secondary to serum K + disturbance (hypokalemia or hyperkalemia). Muscle weakness in the hypokalemic variety is caused by massive uptake of K + into muscles and thus decreased serum K + . Monitor serum K + , glucose, and the ECG; maintain normokalemia and normoglycemia. Avoid muscle relaxants; maintain body temperature. Avoid excessive glucose solutions. TIVA with propofol and remifentanil has been successful in adult patients.
    O’Neill GN: Inherited disorders of the neuromuscular junction. Int Anesthesiol Clin 44(2):91–106, 2006.
    Fanconi syndrome (anemia with renal tubular acidosis) Usually secondary to cystinosis. Proximal tubular defect: impaired renal function; acidosis, K loss, dehydration. Older children may have thyroid and pancreatic dysfunction secondary to cystine deposition. May present for renal transplant in second decade. Treat electrolyte and acid-base abnormalities: Caution with drugs excreted by kidneys. Cisatracurium is the preferred muscle relaxant. Be aware of possibility of other metabolic or endocrine defects.
    Ray TL, Tobias JD: Perioperative care of the patient with nephropathic cystinosis. Paediatr Anaesth 14(10):878–885, 2004.
    Farber disease (lipogranulomatosis) Sphingomyelin deposition: widespread visceral lipogranulomas, especially in CNS. General systemic involvement leading to cardiac, renal failure. Preoperatively assess cardiac and renal status. Deposits in oral cavity, pharynx, and larynx; possible difficult intubation.
    Asada A, Tatekawa S, Terai T et al: The anesthetic implications of a patient with Farber’s lipogranulomatosis. Anesthesiology 80:206, 1994.
    Favism (glucose-6-phosphate dehydrogenase (G6PD) deficiency) Diathesis for spontaneous/induced (drugs, fava beans, infection) hemolytic anemia. Do not give drugs that cause hemolysis (i.e., acetylsalicylic acid, phenacetin, sulfonamides, quinidine, methylene blue). Midazolam, sevoflurane, nitrous oxide, and rocuronium are all acceptable drugs. Anemia: transfuse if necessary.
    Wada R, Hino H, Ando Y: Case of laparoscopic cholecystectomy in a patient with glucose-6-dehydrogenase deficiency. [English abstract.] Masui – Japanese J Anesth 57(2):200–202, 2008.
    Fetal alcohol syndrome Abnormalities of the infant due to maternal heavy alcohol consumption: growth retardation, intellectual impairment, craniofacial abnormalities (microcephaly, microphthalmia, hypoplastic upper lip, flat maxilla), cardiac defects (especially ventricular septal defect), renal abnormalities, and inguinal hernia. May have difficulty with intubation. Evaluate for cardiac and renal diseases.
    Clarren SK, Smith DW: The fetal alcohol syndrome. N Engl J Med 298:1063, 1978.
    Finucaine BT: Difficult intubation associated with the fetal alcohol syndrome. Can Anaesth Soc J 27:574, 1980.
    Fibrodysplasia ossificans progressiva See myositis ossificans.
    Focal dermal hypoplasia (Goltz syndrome) Multifarious features, including multiple papillomas of mucous membranes, skin. Airway may contain papillomas resulting in difficulties with ventilation.
    Forbes disease (glycogen storage disease type III) See von Gierke disease.
    Holzman RS. Airway involvement and anesthetic management in Goltz’s syndrome. J Clin Anesth 3(5):422–425, 1991.
    Freeman-Sheldon syndrome (whistling face syndrome) Progressive congenital myopathy and dysplasia with autosomal or X-linked recessive inheritance. Increased tone and fibrosis of facial muscles. Hypertelorism, microstomia, and micrognathia. Leads to flexion contracture of limbs. Strabismus and inguinal hernia common. Later, kyphoscoliosis causes restrictive lung disease. Very difficult intubation primarily due to microstomia and micrognathia: tight facial muscles will not relax with neuromuscular blockade, and muscle rigidity may follow halothane or succinylcholine. Venous access difficult due to limb flexion contractures. Pulmonary function may be impaired (late). Insertion of an LMA (if microstomia is not severe) facilitates fiberoptic bronchoscopy and intubation. Regional analgesia may be useful for surgery and/or postoperative pain.
    Madi-Jebara S, El-Hajj C, Jawish D et al: Anesthetic management of a patient with Freeman-Sheldon syndrome: case report. J Clin Anesth 19(6):460–462, 2007.
    Friedreich ataxia Progressive degeneration of cerebellum, lateral and posterior column of spinal cord; scoliosis; myocardial degeneration and fibrosis, leading to failure and serious arrhythmias. Glucose intolerance; 10% are diabetic. Assess metabolic state carefully. Care with cardiac depressant drugs; monitor ECG carefully. TIVA with propofol and remifentanil has been recommended. BIS responses appear normal. Response to relaxants uncertain; avoid if possible. Otherwise cisatracurium with block monitor suggested.
    Pancaro C, Renz D: Anesthetic management in Friedreich’s ataxia. Paediatr Anaesth 15(5):433–434, 2005.
    GM1, type 1
    GM1, type 2
    GM2 (Tay-Sachs disease: Sandhoff disease)

    • Invariably fatal. Supportive measures only treatment.

    • Acute onset in infancy: Rapid neurologic decline, severe bone abnormalities; pulmonary infiltration common. Death by 2 yr of age.

    • Onset in early childhood: Few somatic changes. Death from cardiopulmonary causes by 10 yr of age.

    • Onset in infancy: Progressive psychomotor deterioration; blindness, seizures. Predominantly in

    • Ashkenazi Jewish heritage. Death by 5 yr (by 2 yr in most cases).

    • Rare juvenile variants: same features; longer survival.

    Progressive neurologic loss leads to respiratory complications; assess cardiopulmonary status carefully.
    Gardner syndrome Familial polyposis of colon; bone tumors, sebaceous cysts, fibromas. No specific anesthesia problems described.
    Gaucher disease Cerebroside accumulation in CNS, liver, spleen, etc. Serum acid phosphatase increased. Pulmonary disease from aspiration (pseudobulbar palsy); hepatosplenomegaly. Hypersplenism may cause platelet deficiency. If obvious neurologic signs: usually fatal in infancy (neuronopathic type 2 and 3). If nonneuronopathic (type 1), course is more chronic with bone pain, fractures, etc. Assess pulmonary status carefully; beware of aspiration. Tracheal intubation usually routine but may be difficult if trismus, neck, or airway infiltration. Surgical bleeding may be a major problem; treat coagulation disorders and correct anemia.
    Ioscovich A, Briskin A, Abrahamov A et al: Uncomplicated outcome after anesthesia for pediatric patients with Gaucher disease. Can J Anaesth 52(8):845–847, 2005.
    Glanzmann disease (thromboasthenia) Abnormal platelet function, leading to mild thrombocytopenic purpura; abnormality of high-energy phosphate mechanisms. Considerable bleeding risk with any surgical procedure. No specific therapy for bleeding; platelet transfusions disappointing. Therapy with recombinant activated factor VII plus antithrombolytic agents may be helpful. May have history of steroid therapy.
    Gunaydin B, Ozkose Z, Pezek S: Recombinant activated factor VII and epsilon aminocaproic acid treatment of a patient with Glanzmann’s thrombasthenia for nasal polipectomy. J Anesth 21(1):106–107, 2007.
    Glucose-6-phosphate dehydrogenase (G6PD) deficiency See favism.

    • Glycogen storage disease

    • Type I

    • Type II

    • Type III (Cori disease; Forbes disease)

    • Type IV

    • Type V

    • Type VI (Hers disease)

    • Type VII

    • Type VIII

    • See von Gierke disease.

    • See Pompe disease.

    • See von Gierke disease.

    • See von Gierke disease.

    • See Andersen disease.

    • See McArdle disease.

    • See muscle phosphofructokinase deficiency.

    • See hepatic phosphorylase kinase deficiency.

    Goldenhar syndrome (oculoauriculovertebral syndrome; hemifacial microsomia) Unilateral mandibular hypoplasia; CHD in 20%. Embryonic malformation due to chromosome 22 trisomy. Vertebral abnormalities may limit neck extension. Airway problems; may be extremely difficult to hold a mask in place and maintain an airway once anesthesia induced. Tracheal intubation may be very difficult (bilateral) or very easy (unilateral or left-sided lesion). If right TMJ and mandible are involved or bilateral disease, increased difficulty for intubation. Have an LMA ready plus all difficult airway supplies. TIVA with propofol and remifentanil may facilitate rapid emergence. Extubate trachea awake. Problems of associated cardiac disease.
    Altintas F, Cakmakkaya OS: General anesthesia for a child with Goldenhar syndrome. Pediatr Anesth 15(6):529–530, 2005.
    Nargozian C, Ririe DG, Bennun RD et al: Hemifacial microstomia: anatomical prediction of difficult intubation. Pediatr Anesth 9:393–398, 1999.
    Goltz syndrome See focal dermal hypoplasia and Gorlin-Goltz syndrome.
    Gonadal dysgenesis See Turner syndrome.
    Gorham syndrome (disappearing bone disease) Massive osteolysis and lymphangiomatosis. Pathologic fractures and bony deformities with neurologic and respiratory complications. Severe kyphoscoliosis may be present. Problems relate to bony involvement: cervical spine subluxation, thoracic deformity leading to respiratory failure. Pleural effusions or chylothorax may be present. Normal intellect. Tracheal intubation may be difficult. Cervical spine precautions indicated. Caution with protein bound drugs if chylothorax has caused hypoproteinemia. Avoid succinylcholine to prevent fasciculations that break bones. Caution with transport and positioning. Postoperative ventilation may be required.
    Szabo C, Habre W: Gorham syndrome: anaesthetic management. Anaesthesia 55(2):157–159, 2000.
    Gorlin-Chaudhry-Moss syndrome Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies. Normal intelligence. Asymmetry of head—difficult airway.
    Ortalli G, Tiberio I, Mammana G: Gorlin-Goltz syndrome. Observation of a case. [Italian] English abstract. Minerva Anesthesiol 57(4):161–163, 1991.
    Gorlin-Goltz syndrome (basal cell nevus syndrome) Multiple nevoid basal cell carcinomas, hypertelorism, mandibular prognathism, multiple jaw cysts and fibrosarcomas, kyphoscoliosis, incomplete segmentation of cervical and thoracic vertebrae; congenital hydrocephalus, mental retardation, etc. Extreme care in positioning and intubating; cervical movement may be limited. Increased ICP may be unrecognized.
    Grönblad-Strandberg syndrome (pseudoxanthoma elasticum) Degeneration of elastic tissue in skin, eye, and cardiovascular system; rupture of arteries, especially in gastrointestinal tract; hypertension; arterial calcification; occlusion of cerebral and coronary arteries. Assess cardiovascular status; ECG and echocardiogram. Manage as for coronary artery disease. Difficult to maintain IV cannula in situ. Prevent tachycardia or hypertension (rupture of aneurysms). Prevent arterial line (vessel damage). Avoid NG tube (bleeding).
    Krechel SL, Ramirez-Inawat RC, Fabian LW: Anesthetic considerations in pseudoxanthoma elasticum. Anesth Analg 60(5):344–347, 1981.
    Guillain-Barré syndrome (acute [idiopathic] polyneuritis) Acute polyneuropathy; progressive peripheral neuritis; usually involving cranial nerves; bulbar palsy with hypoventilation and hypotension. May follow an infection or surgery. Early treatment by plasma exchange and immunotherapy is highly desirable to limit the disease. Some require tracheotomy and ventilatory support. Do not use succinylcholine for at least 3 months after onset of polyneuritis and until lower motor neuron deficit resolves (⇑ K + release). May have serious hemodynamic instability. Disease may first present in the postoperative period with weakness and loss of tendon reflexes, etc.
    Jones GD, Wilmshurst JM, Sykes K et al: Guillain-Barre syndrome: delayed diagnosis following anaesthesia. Paediatr Anaesth 9(6):539–542, 1999.
    Hallervorden-Spatz disease Autosomal recessive disorder of basal ganglia: leading to dementia, dystonia, and chorea. Torticollis, scoliosis, and trismus develop. Episodes of airway obstruction and desaturation may occur during posturing. Stereotactic thalamotomy may improve the neurologic state considerably. Assess pulmonary status carefully. Inhalation induction of anesthesia leads to relaxation of abnormal posturing and trismus and facilitates intubation. Avoid succinylcholine (⇑ K + release may intensifyrigidity) or rapid-sequence induction (in case of difficult intubation). Reaction to usual anesthetics is normal.
    Keegan MT, Flick RP, Matsumoto JY et al: Anesthetic management for two-stage computer-assisted, stereotactic thalamotomy in a child with Hallervorden-Spatz Disease. J Neurosurg Anesthesiol 12(2):107–111, 2000.
    Hand-Schüller-Christian syndrome See Histiocytosis X.
    Harlequin syndrome Skin color changes with demarcation line bisecting the body. Hemifacial sweating and flushing due to unilateral sympathectomy. No contraindications to routine anesthesia. Hemifacial flushing may develop during neck surgery due to interference with sympathetic ganglia.
    Kil HK, Kim WO, Cho JE et al: Transient postoperative harlequin syndrome combined with Horner’s syndrome in a pediatric patient after neck mass excision. Paediatr Anaesth 17(6):597–68l, 2007.
    Hecht-Beals syndrome Mental retardation, arachnodactyly, kyphoscoliosis, and multiple congenital joint contractures. Difficult airway due to limited mouth opening—not obvious preoperatively.
    Nagata O, Tateoka A, Shiro R et al: Anaesthetic management of two paediatric patients with Hecht-Beals syndrome. Paediatr Anaesth 9(5):444–447, 1999.
    Hemangioma with thrombocytopenia See Kasabach-Merritt syndrome.
    Johnson GD, Rosales JK: The haemolytic uraemic syndrome and anesthesia. Can J Anaesth 34:196, 1987.
    Hemolytic uremic syndrome

    • Usually occurs in 1- to 2-year-olds; prodromal (usually gastrointestinal) infection followed by sudden onset of renal failure, hemolytic anemia, and thrombocytopenia. All systems may be involved:

    • Cardiovascular system: severe hypertension, myocarditis, and congestive cardiac failure; respiratory-pulmonary insufficiency.

    • Central nervous system: depression progressing to drowsiness, seizures, and coma. Hepatosplenomegaly with hepatic dysfunction, seizures, and coma. Coagulopathy: thrombocytopenia, decreased platelet function, prolonged prothrombin time and bleeding time. Treatment is by blood transfusion, renal dialysis, and symptomatic therapy for other disorders.

    Comprehensive respiratory assessment required. Correct electrolyte, acid-base, and coagulation abnormalities. May have full stomach (gastrointestinal dysfunction) requiring RSI. Isoflurane and cisatracurium are agents of choice. Intensive continuous monitoring of biochemistry needed intraoperatively and postoperatively.
    Johnson GD, Rosales JK: The haemolytic uraemic syndrome and anesthesia. Can J Anaesth 34:196, 1987.
    Hepatic phosphorylase kinase deficiency (glycogen storage disease type VIII) Hepatomegaly; increased liver glycogen concentration. Minor growth retardation and delayed motor development. Mild to moderate hypoglycemia may occur. Many children are asymptomatic and lead normal lives on a diet. Occasionally this is more severe with hypoglycemia and acidosis. Very rarely a form of this disease may cause severe neonatal hypoglycemia. Assess metabolic status and history carefully. No specific anesthesia complications reported. Monitor glucose levels (and acid/base if indicated) perioperatively.
    Tuchman M, Brown BI, Burke BA et al: Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. Metab Clin Exp 35(7):627–633, 1986.
    Herlitz syndrome See epidermolysis bullosa.
    Hermansky-Pudlak syndrome Albinism: bleeding diathesis due to platelet abnormality. Monitor coagulation. May require platelet transfusion during surgery.
    Haddadin AS, Ayoub CM, Sevarino FB et al: Evaluation of hemostasis by the Clot Signature Analyzer: a potentially valuable device for the anesthesiologist. J Clin Monit Comp 15(2):125–129, 1999.
    Hers disease See von Gierke disease.
    Histiocytosis X (eosinophilic granuloma: Hand-Schüller-Christian disease, Letterer-Siwe disease) Lesions in bones and viscera (larynx, lungs, liver, and spleen). Clinical course similar to acute leukemia. Hypersplenism, pancytopenia, anemia, purpura, hemorrhage; hepatic involvement. Pulmonary-diffuse hilar infiltration: respiratory failure, cor pulmonale. Gingival inflammation and necrosis, with loss of teeth. Diabetes insipidus if sella turcica involved. Many die in first year of life. Correct anemia and coagulation defects. Assess cardiorespiratory status carefully. Check electrolytes and fluid balance. May have history of steroid therapy. Laryngeal fibrosis; intubation may be difficult. Beware of loose teeth.
    Broscheit J, Eichelbroenner O, Greim C et al: Anesthetic management of a patient with histiocytosis X and pulmonary complications during Caesarean section. Euro J Anaesth 21(11):919–921, 2004.
    Holt-Oram syndrome (heart-hand syndrome) Upper limb abnormalities; CHD in 80% (usually ASD) but arrhythmias may occur with normal cardiac anatomy; possibility of sudden death from arrhythmia, pulmonary embolus, coronary occlusion. Preoperatively assess for cardiac disease (ECG and echocardiogram as indicated). Upper limb venous system may be abnormal. No other anesthesia problem.
    Shono S, Higa K, Kumano K: Dan K. Holt-Oram syndrome. Br J Anaesth 80(6):856–857, 1998.
    Homocystinuria Thromboembolic phenomena due to intimal thickening; ectopia lentis, osteoporosis, kyphoscoliosis. Hypoglycemia may occur. Angiography may precipitate thrombosis, especially cerebral. Give fluids to maintain urine output plus dextran 40 to reduce viscosity and platelet adhesiveness and increase peripheral perfusion. Pneumatic stockings to prevent venous stasis. Infuse dextrose and monitor glucose level. Avoid nitrous oxide (impairs conversion of homocysteine to methionine and increases level).
    Lowe S, Johnson DA, Tobias JD: Anesthetic implications of the child with homocystinuria. J Clinical Anesth. 6(2):142–144, 1994.
    Koblin DD: Homocystinuria and administration of nitrous oxide. J Clinical Anesth 7(2):176, 1995.
    Hunter syndrome (mucopolysaccharidosis type II)

    • Similar, but less severe than Hurler syndrome (See page 574 ).

    • See also mucopolysaccharidoses.

    As for Hurler syndrome. Difficult intubation due to large tongue. Attempts to secure airway using the LMA have not always been successful. Delayed recovery from anesthesia and postobstructive pulmonary edema reported.
    Busoni P, Fognani G: Failure of the laryngeal mask to secure the airway in a patient with Hunter’s syndrome (mucopolysaccharidosis type II). Paediatr Anaesth 9:153, 1999.
    Kreidstein A, Boorin MR, Crespi P et al: Delayed awakening from general anaesthesia in a patient with Hunter syndrome. Can J Anaesth 41:423, 1994.
    Hurler syndrome (mucopolysaccharidosis type I H; formerly classed as type I) Mental retardation, gargoyle facies, deafness, stiff joints, dwarfing, pectus excavatum, kyphoscoliosis. Abnormal tracheobronchial cartilages; severe coronary artery disease at early age, valvar and myocardial involvement. Hepatosplenomegaly. Most die from respiratory and cardiac failure before 10 yr of age; sudden death common after 7 yr of age. See mucopolysaccharidoses. Preoperatively evaluate cardiac status, echocardiogram, and ECG. Antibiotic prophylaxis and chest physiotherapy preoperatively. Give atropine preoperatively to dry airway. Upper airway obstruction due to profuse lymphoid tissue infiltration. Caution with neck movement; hypoplasia of the odontoid, atlantoaxial subluxation may occur. Difficult intubation, especially in older children, due to micrognathia, short neck, and limited movement of temporomandibular joint. LMA may not relieve obstruction. Propofol, sevoflurane, cisatracurium are agents of choice. Epidural analgesia may fail (due to lymphoid deposition).
    Belani KG, Krivit W, Carpenter BL et al: Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings. J Ped Surg 28(3): 403–8, 1993.
    Walker RW, Colovic V, Robinson DN et al: Postobstructive pulmonary oedema during anaesthesia in children with mucopolysaccharidoses. Paediatr Anaesth 13(5):441–447, 2003.
    Hurler-Scheie compound syndrome (type I HS) See Scheie syndrome.
    Hutchinson-Gilford syndrome See Progeria.
    Hyalinosis, cutaneous- mucosal See Urbach-Wiethe disease.
    Hyperexplexia See stiff baby syndrome.
    Hyperpyrexia/ hyperthermia, malignant See page 197 .
    I-cell disease (mucolipidoses) Mental retardation, Hurler-type bone changes, severe joint limitation, chronic pulmonary disease; cardiac involvement, valvar insufficiency common. Atlantoaxial subluxation. Death in early childhood common but some survive 1 or 2 decades. Preoperatively assess cardiac status: echocardiogram and ECG. Tracheal intubation and airway maintenance difficulty, limited jaw movement, stiffness of neck and rib cage. Caution with neck movement. No specific anesthesia recommendations. May be difficult to wean from ventilatory support.
    Gonzalez Gonzalez G, Jimenez Lopez I: Anesthetic management of a boy with sialidosis. [Spanish, English abstract] Revista Espanola de Anestesiologia y Reanimacion 53(4):253–256, 2006.
    Idiopathic thrombocytopenic purpura Autoimmune disease in which an antiplatelet factor is present, resulting in destruction of platelets in the spleen with thrombocytopenia and the potential for bleeding. May be acute or chronic; severe gastrointestinal and intracranial bleeding is rare in children, most recover in a few weeks. Chronic ITP is more likely in children over 10 yr of age. Treatment with high dose steroids and γ-globulin is effective in raising the platelet count (i.e., for a surgical procedure). Splenectomy is very rarely recommended in children. May have history of steroid therapy. Platelet counts may be very low, but platelet transfusions are ineffective. Do not give NSAIDs. Avoid intramuscular injections. (If splenectomy is performed, do not give platelets until the spleen is out.)
    British Committee for Standards in Haematology General Haematology Task Force. Guidelines for the investigation and management of idiopathic thrombocytopenic purpura in adults, children and in pregnancy. Br J Haematol 120(4):574–596, 2003.
    Ivemark syndrome See asplenia syndrome.
    Jervell and Lange-Nielsen syndrome (Romano-Ward syndrome, congenital long QT syndrome) Congenital deafness and cardiac conduction defects: arrhythmias and syncopal attacks (may be misdiagnosed as epilepsy). ECG shows large T waves, prolonged Q-T interval. Sudden death may occur. Serious arrhythmias (ventricular fibrillation) under anesthesia. Acquired long QT syndrome may be a result of drug therapy. Assess cardiac status carefully; consult with the child’s cardiologist. General anesthesia may precipitate arrhythmias; pretreat with β-blockers to decrease risk. Avoid atropine, sevoflurane, and halothane. Propofol may improve rhythm disturbances. TIVA with propofol and remifentanil (or other opioid) may be the optimal technique. Left stellate ganglion block is recommended to decrease the Q-T interval. Ventricular fibrillation may respond to lidocaine and defibrillation. Watch for hypoglycemia as a complication of β-blockade.
    Curry TB, Gaver R, White RD: Acquired long QT syndrome and elective anesthesia in children. Paediatr Anaesth 16(4):471–478, 2006.
    Saussine M, Massad I, Raczka F et al: Torsade de pointes during sevoflurane anesthesia in a child with congenital long QT syndrome. Paediatr Anaesth 16(1):63–65, 2006.
    Yanagida H, Kemi C, Suwa K: The effects of stellate ganglion block on the idiopathic prolongation of the Q-T interval with cardiac arrhythmia (The Romano-Ward syndrome) Anesth Analg 55:782–787, 1976.
    Juvenile hyaline fibromatosis Autorecessive disease; multiple subcutaneous nodules, flexion contractures of large and small joints, radiolucent bone destruction (especially femur and humerus), hypertrophic gingiva. Systemic manifestations may involve pleura, lung, renal, and digestive system. Entrapment of nerves and vessels may occur. Intelligence normal. Check preoperatively for evidence of other organ involvement. Difficult intubation due to gingival hyperplasia and limited motion at neck and temporomandibular joints. Careful positioning and padding required.
    Norman B, Soni N, Madden N: Anaesthesia and juvenile hyaline fibromatosis. Br J Anaesth 76(1):163–166, 1996.
    Jeune syndrome (asphyxiating thoracic dystrophy) Severe thoracic malformation leading to neonatal asphyxia. Associated pulmonary hypoplasia. Milder forms may present in older children. Cystic renal changes, progressing to renal failure. Avoid high pressure ventilation (hypoplastic lungs). Surgery to enlarge thorax may necessitate prolonged periods of assisted ventilation. Care with drugs excreted by kidneys.
    Borland LM. Anesthesia for children with Jeune’s syndrome (asphyxiating thoracic dystrophy). Anesthesiology 66(1):86–88, 1987.
    Joubert syndrome (Mohr syndrome variant, familial cerebellar vermis agenesis) Rare autosomal recessive disorder. Cerebellar vermis dysplasia or agenesis and brain stem cysts. Hypotonia, ataxia, jerky eye movements, and tongue protrusion. Mental retardation. Abnormal respiration: alternating tachypnea and apneic spells. May be lethal in early childhood. Life-threatening respiratory problems perioperatively. Very sensitive to anesthetic agents and opioids. Inhalational induction, controlled ventilation, and local or regional analgesia advised. Apnea monitoring postoperatively; caffeine may be useful.
    Habre W, Sims C, D’Souza M: Anaesthetic management of children with Joubert syndrome. Paediatr Anaesth 7(3):251–253, 1997.
    Kabuki syndrome Mental retardation and craniofacial anomalies; 50% have CHD and 25% have renal disease. Muscular hypotonia may be present but muscle biopsies are normal. Scoliosis develops in many. May have difficult airway but no other specific anesthesia problems reported.
    Johnson G, Mayhew JF: Anesthesia for a child with Kabuki syndrome. Paediatr Anaesth 17(9):900–901, 2007.
    Kartagener syndrome Dextrocardia, situs inversus. Immotile cilia, deficient mucociliary clearance; sinusitis, bronchiectasis. Defective immunity. Order physiotherapy preoperatively. Use careful aseptic technique (reverse isolation). Assess respiratory status carefully. Affected lung lobes may need to be carefully isolated for lobectomy.
    Sahajananda H, Sanjay OP, Thomas J et al: General anaesthesia for lobectomy in an 8-year-old child with Kartagener’s syndrome. Paediatr Anaesth 13(8):714–717, 2003.
    Kasabach-Merritt syndrome Hemangioma suddenly increases in size; thrombocytopenia, hypofibrinogenemia → purpura, bleeding, anemia, increased fibrinolytic activity. Treated by radiotherapy (surgery may precipitate disseminated intravascular coagulation). Recovery follows destruction of tumor. If any surgery planned prepare for major blood losses! Correct anemia, hypovolemia, and coagulation defects. Fresh whole blood, FFP, and platelet transfusions required. Steroids may help.
    Kawahara M, Takeshita T, Akita S: Anesthetic management of a patient with Kasabach-Merritt syndrome. Anesth Prog 34(1):17–19, 1987.
    Kawasaki syndrome (mucocutaneous lymph node syndrome) Acute febrile exanthematous disease secondary to vasculitis with cardiac involvement (pancarditis, valvular dysfunction, arrhythmias, and coronary artery vasculitis). Seen in infants and young children, endemic in Japan. Signs include fever, conjunctivitis, oral erythema, strawberry tongue, red hands and feet. Cardiac involvement in 20% of cases: ranges from asymptomatic ECG changes to severe congestive failure and massive myocardial infarction. Salicylates are used in treatment and may reduce coronary lesions. Biliary tract or bowel symptoms may require laparotomy. Hepatic involvement in 10% of patients. Consult with cardiology for cardiac status. Avoid myocardial depressants and anesthetize as for a patient with coronary artery disease. Monitor for cardiac ischemic changes (V 5 and lead II). Be prepared with vasoactive and antiarrhythmic drugs. Sympathetic nerve blocks may improve ischemic limb circulation. Sevoflurane anesthesia has been used satisfactorily. Salicylates may increase surgical bleeding.
    Morrison JE, Anderson M, Chan KC et al: A 15-year review of children with Kawasaki’s syndrome having general anesthesia or deep sedation. Paediatr Anaesth 15(12):1053–1058, 2005.
    Kenny-Caffey syndrome Normal intellect. Dwarfism, macrocephaly, thoracic skeletal abnormalities, anemia, hypocalcemia, and can have mandibular hypoplasia. Intubation may be difficult. Use of the LMA is an option for securing the airway. Monitor ionized calcium levels perioperatively.
    Janke EL, Fletcher JE, Lewis IH: Anaesthetic management of the Kenny-Caffey syndrome using the laryngeal mask. Paediatr Anaesth 6(3):235–238, 1996.
    Ketonuria, branched-chain See maple syrup urine disease.
    Klinefelter syndrome (gonosomal aneuploidy with tubular dysgenesis) Confined to males. Sex chromosome defect (47 XY. XXY). Tall, reduced intelligence, behavior problems, hypogonadism, vertebral collapse due to osteoporosis. May have diabetes mellitus. Androgen replacement therapy is applied at puberty. No anesthesia problem reported, except as related to diabetes. Position very carefully to prevent spinal cord damage (osteoporosis).
    Wattendorf DJ, Muenke M: Klinefelter syndrome. Amer Fam Phys 72(11):2259–2262, 2005.
    Klippel-Feil syndrome Congenital fusion of two or more cervical vertebrae, causing neck rigidity. Occipital encephalomyelocele may be associated in the neonate. Arnold-Chiari malformation and/or scoliosis may be associated. Rib defects, cardiac and renal disease occasionally related. Assess for other significant conditions. Intubation may be very difficult because of immobile neck: should be done awake if possible; otherwise inhalation induction without muscle relaxant. Have an LMA available. Do not extubate until fully awake.
    Cakmakkaya OS, Kaya G, Altintas F et al: Anesthetic management of a child with Arnold-Chiari malformation and Klippel-Feil syndrome. Paediatr Anaesth 16(3):355–356, 2006.
    Klippel-Trénaunay-Weber syndrome (angio-osteohypertrophy) Hemangiomas with hypertrophy of adjacent bone; thrombocytopenia. AV fistulas and anemia lead to high cardiac output, with possible cardiac failure; thrombocytopenia in association with visceral hemangiomas. Macrocephaly, scoliosis, and pectus excavatum. Severe bleeding may occur from hemangiomas. Check cardiac status carefully, correct bleeding disorders. Assess airway carefully.
    Ezri T, Szmuk P, Panksy A et al: Anaesthetic management for Klippel-Trenaunay-Weber syndrome. Paediatr Anaesth 6(1):81–82, 1996.
    Krabbe disease (globoid cell leukodystrophy) See leukodystrophy.
    Larsen syndrome Multiple congenital dislocations: knees, elbows, hips. Characteristic facies, hydrocephalus, cleft palate, flat face, upturned nose. Connective tissue defect of cartilage of ribs, epiglottis, arytenoids, and tracheomalacia. Cervical spine abnormal, kyphoscoliosis, chronic respiratory problems, and CHD. Check for cardiac defects and respiratory status. Intubation may be difficult and subglottic stenosis may be present. Caution with neck; cervical spine instability. Possible increased ICP.
    Malik P, Choudhry DK: Larsen syndrome and its anaesthetic considerations. Paediatr Anaesth 12(7):632–636, 2002.
    Laurence-Moon-Biedl syndrome Mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia. (Polydactyly and obesity, typical in Bardet-Biedl syndrome, are absent.) May have renal abnormalities and CHD. Appropriate investigations are indicated in children with renal or CHD.
    Banman ML, Hogan GR: Laurence-Moon-Biedl syndrome. Am J Dis Child 126:119, 1973.
    Leigh disease (subacute necrotizing encephalomyelopathy) A genetic neurologic and metabolic disease. May occur in infancy or childhood. Infants develop hypotonia, somnolence, optic atrophy, deafness, and pyramidal tract signs. Altered respiratory patterns may occur and may lead to sudden infant death syndrome. Impaired intracellular metabolism secondary to mitochondrial involvement. Older children have acute neurologic deterioration and respiratory failure. General anesthesia may be followed by respiratory failure and death. Preoperatively, assess pulmonary status carefully and treat acute infections. Ensure adequate hydration, give dextrose infusion, and monitor glucose levels. Use normal saline and avoid lactated Ringer’s solution. Treat acidosis. Monitor ventilation carefully in the perioperative period. Propofol may be useful for many procedures.
    Gozal D, Goldin E, Shafran-Tikva S et al: Leigh syndrome: anesthetic management in complicated endoscopic procedures. Paediatr Anaesth 16(1):38–42, 2006.
    LEOPARD syndrome A cardio-cutaneous syndrome; multiple large freckles; hypertelorism, eyelid ptosis, deafness. CHD, progressive hypertrophic cardiomyopathy (pulmonary stenosis in 95%); ECG anomalies include aberrant conduction; serious arrhythmias may occur. Growth retardation common; pectus carinatum, kyphosis, etc., in some. Genitourinary anomalies (hypospadias cryptorchidism, ovarian hypoplasia, etc.). Preoperatively assess cardiorespiratory function. Intubation may be difficult. Problems of associated cardiac disease; monitor ECG.
    Torres J, Russo P, Tobias JD et al: Anaesthetic implications of LEOPARD syndrome. Paediatr Anaesth 14(4):352–356, 2004.
    Leprechaunism (Donohue syndrome) A severe insulin resistance disease; many organ systems involved. Elfin face. Failure to thrive, endocrine disorders, severe mental retardation. Hypoglycemia due to hyperinsulinism from hyperplastic islets of Langerhans; renal tubular defects → impaired renal function. Lungs may be dysmorphic. Most die before 1 yr of age. Assess for multiple organ disease. Check metabolic status; monitor blood glucose. Intubation may be difficult. Use drugs excreted by kidneys with caution.
    Kallo A, Lakatos I, Szijarto L: Leprechaunism (Donohue’s syndrome). J Pediatr 66:372, 1965.
    Lesch-Nyhan syndrome Disorder of purine metabolism, occurs in males. Mental and growth retardation, malnutrition, choreoathetosis. Very aggressive with compulsive self-destructive behavior. Hyperuricemia leads to renal calculi, RBC damage, hypertension, and coronary artery disease. Renal failure by age 20 yr. Use drugs excreted by the kidney with caution. Beware of regurgitation, give metoclopramide. Diazepam for behavior management. Midazolam, propofol, thiopental, isoflurane, and cisatracurium (Hoffman degradation independent of renal dysfunction) are recommended. Caution with catecholamines.
    Larson LO, Wilkins RG: Anesthesia and the Lesch-Nyhan syndrome. Anesthesiology 63(2):197–199, 1985.
    Letterer-Siwe disease See Histiocytosis X.
    Leukodystrophy (Alexander disease, Canavan disease, Krabbe disease, Pelizaeus-Merzbacher disease, adrenoleukodystrophy, metachromatic leukodystrophy) Inherited disorder of myelin formation. Progressive degenerative disease with spasticity, gait disturbance, poor motor development, seizures, extrapyramidal movements, and choreoathetosis. Disordered swallowing and gastroesophageal reflux lead to aspiration pneumonia. Malnutrition and anemia. Assess pulmonary status and anticonvulsant medications. Copious oral secretion, use an antisialagogue. Danger of pulmonary aspiration. Position and pad carefully. Avoid succinylcholine (theoretical risk of hyperkalemia). Phenytoin therapy results in increased requirements for vecuronium and fentanyl. Maintain body temperature carefully. Extubate awake, monitor carefully postoperatively. (N.B. Adrenal dysfunction in adrenoleukodystrophy; give steroids. Lumbar epidural analgesia may be appropriate for postoperative pain.)
    Hernandez-Palazon J. Anaesthetic management in children with metachromatic leukodystrophy. Paediatr Anaesth 13(8):733–734, 2003.
    Lipoatrophy with diabetes (Seip syndrome) Generalized loss of all body fat, fibrotic liver leading to failure, portal hypertension; splenomegaly, nephropathy, diabetes. May have renal failure. Hypersplenism may lead to anemia and thrombocytopenia. Check coagulation and renal function preoperatively. Considerations for diabetes. Caution with drugs metabolized by liver and those excreted by the kidneys.
    Oral EA. Lipoatrophic diabetes and other related syndromes. Rev Endocr Metab Disord 4(1):61–77, 2003.
    Lipogranulomatosis See Farber disease.
    Long QT syndrome See Jervell and Lange-Nielsen syndrome (Romano-Ward syndrome).
    Lowe syndrome (oculocerebrorenal syndrome) Affects males. Cataract, glaucoma, mental retardation; hypotonia, renal acidosis, proteinuria, osteoporosis, and rickets. Check electrolyte and acid-base balance, correct acidosis and hypokalemia, and low serum Ca ++ (treated with vitamin D and Ca ++ ). Use reduced doses of nondepolarizing muscle relaxants; use a block monitor. Caution with opioids. Avoid hyperventilation or excess glucose infusion (decreases serum K + ). Caution with drugs excreted by kidneys.
    Saricaoglu F, Demirtas F, Aypar U: Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi’s syndrome. Paediatr Anaesth 14(6):530–532, 2004.
    Lupus erythematosus disseminatus See collagen diseases.
    Maffucci syndrome Enchondromatosis and hemangiomas with malignant change. Pathologic fractures, gastrointestinal bleeding from hemangiomas, orthostatic hypotension. Transport and position carefully. May show orthostatic hypotension and be sensitive to vasodilator drugs. Caution with intubation (airway hemangiomata).
    Chan SK, Ng SK, Cho AM et al: Anaesthetic implications of Maffucci’s syndrome. Anaesth Intens Care 26(5):586–589, 1998.
    Malignant hyperpyrexia/hyperthermia See page 197 .
    Mandibulofacial dysostosis See Treacher Collins syndrome.
    Mannosidosis Type I (severe), Type II (milder) Primary metabolic deficiency of α-mannosidases A and B → lysosomal accumulation of mannose-rich substrates. Abnormal neutrophil immunologic function. Hepatosplenomegaly, severe recurrent infections, and early death. Hearing loss, mental retardation, Hurler-like skeletal changes, gargoylelike facies, clumsy motor function, weak connective tissues. Be alert for hepatic dysfunction, and for hypoventilation perioperatively and postoperatively.
    Desnick RJ, Sharp HL, Grabowski GA et al: Mannosidosis: clinical morphologic, immunologic, and biochemical studies. Pediatr Res 10:985, 1976.
    Maple syrup urine disease (MSUD; branched-chain ketonuria) Inability to metabolize leucine, isoleucine, and valine and accumulation of branched chain amino acids and keto acids leads to severe neurologic damage and respira’ tory disturbances. Episodes of hypoglycemia. Treated by diet only from birth. Acute, life-threatening episodes may require peritoneal dialysis or exchange transfusion. Check acid-base balance, plasma amino acids preoperatively. Check serum glucose before, during, and after operation. Start glucose infusion (at least 10–15 mg/kg/min) preoperatively and continue until diet is reestablished. Prevent overhydration. Propofol infusion has been suggested.
    Kahraman S, Ercan M, Akkus O et al: Anaesthetic management in maple syrup urine disease. Anaesthesia 51(6):575–578, 1996.
    Marfan syndrome (arachnodactyly) Tall, thin predominantly male patients with long fingers, long face, and high arched palate. Mutant gene at chromosome 15 for fibrillin causes connective tissue disorder leading to joint instability and dislocation (including cervical spine), dislocation of lens, kyphoscoliosis, hernia, pectus excavatum, lung cysts. High incidence (~4%) of spontaneous pneumothorax. Aortic root dilation may lead to aortic incompetence or aneurysm; pulmonary artery or mitral valve may be diseased. Preoperative cardiac assessment usually indicated. Intubation may be difficult. Laryngoscopy should be gentle to prevent cervical spine or temporomandibular joint damage. Tracheomalacia leading to difficult ventilation has been described. Position carefully to prevent dislocations. Avoid myocardial depressants, but do not allow the patient to become hypertensive (danger of aortic dissection). Beware of pneumothorax with controlled ventilation.
    Keane MG, Pyeritz RE: Medical management of Marfan syndrome. Circ 117(21):2802–2813, 2008.
    Oh AY, Kim YH, Kim BK et al: Unexpected tracheomalacia in Marfan syndrome during general anesthesia for correction of scoliosis. Anesth Analg 95(2): 331–332, 2002.
    Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) Normal intellect. Kyphoscoliosis with poor lung reserve; chronic respiratory infections; hypersplenism, anemia, thrombocytopenia. Myocardial involvement; heart failure by 20 yr of age. See mucopolysaccharidoses. Preoperatively assess cardiac status, chest x-ray, and platelet count. Care with cardiac depressant drugs. Spinal cord compression may occur. May require ventilation postoperatively.
    Linstedt U, Maier C, Joehnk H et al: Threatening spinal cord compression during anesthesia in a child with mucopolysaccharidosis VI. Anesthesiology 80:227, 1994.
    Marshall-Smith syndrome Skeletal dysplasia and dysmorphic facial features. Hypotonia and failure to thrive. Possible atlantoaxial instability. Respiratory tract anomalies lead to complications. Flexion/extension lateral neck films to rule out atlantoaxial instability. Airway problems and difficult intubation. Association with laryngomalacia and tracheomalacia described as a cause of failure to ventilate. Require oropharyngeal or nasopharyngeal tube during induction and recovery. Cautious use of muscle relaxants if hypotonia present.
    Dernedde G, Pendeville P, Veyckemans F et al: Anaesthetic management of a child with Marshall-Smith syndrome. Can J Anaesth 45(7):660–663, 1998.
    Mastocytosis syndrome (urticaria pigmentosa) Abnormal aggregates of histamine- and heparin- containing mast cells; skin lesion is a brownish-red maculopapular rash mainly on trunk. Mast cell degranulation with systemic histamine and heparin release may occur with trauma, temperature changes, alcohol, and drugs (including salicylates, opioids, curare, gallamine, papaverine, polymyxin, and atropine). Often with a history of gastroesophageal reflux. Minor surgical procedures have lead to generalized anaphylaxis and death, but most are uneventful. Avoid stimuli and drugs known to cause mast cell degranulation. Prophylactic treatment with antihistamines (i.e., diphenhydramine, ranitidine) and steroids has been recommended. Inhalation anesthetics may be safely used. Propofol, rocuronium, succinylcholine, fentanyl, remifentanil, and/or meperidine (Demerol) may safely be used. Caution with NSAIDs. Bleeding secondary to heparin release may require protamine therapy.
    Carter MC, Uzzaman A, Scott LM et al: Pediatric mastocytosis: routine anesthetic management for a complex disease. Anesth Analg 107(2):422–427, 2008.
    Borgeat A, Ruetsch YA: Anesthesia in a patient with malignant systemic mastocytosis using a total intravenous anesthetic technique. Anesth Analg 86(2): 442–444, 1998.
    McArdle myopathy (glycogen storage disease type V) Muscle phosphorylase deficiency; serum lactate not increased by exercise. Initially, increased fatigability; progresses to muscle cramps and weakness (all skeletal muscles affected), myoglobinuria may lead to renal failure. Myocardium may be involved; ECG abnormalities have been reported. Patients may test positive for MH with the in vitro contracture test but no reports of clinical MH have been reported. Preoperative echocardiogram and ECG. Do not use tourniquets; maintain infusion of dextrose during surgery; do not use succinylcholine. Care with cardiac depressant drugs; monitor ECG.
    Bollig G, Mohr S, Raeder J: McArdle’s disease and anaesthesia: case reports. Review of potential problems and association with malignant hyperthermia. Acta Anaesth Scand 49(8):1077–1083, 2005.
    Meckel syndrome (dysencephalia splanchnocystica) Microcephaly, micrognathia, and cleft epiglottis, CHD, renal dysplasia, polydactyly. Most die in infancy. Preoperatively assess cardiac status. Airway and intubation may be difficult. Care with drugs excreted by kidneys.
    Salonen R, Paavola P: Meckel syndrome. J Med Gen 35(6):497–501, 1998.
    Medium chain acyl-CoA dehydrogenase deficiency (MCAD) A disorder of fatty acid metabolism secondary to deficiency of mitochondrial enzyme. Hypoglycemia and seizures or coma may result. Treated with carnitine. Avoid prolonged fasting, give IV dextrose infusion and check blood glucose perioperatively. Avoid propofol due to its high fat content. Avoid lactated Ringer’s solution, use normal saline.
    Justiz AC, Mayhew JF: Anesthesia in a child with medium-chain acyl-CoA dehydrogenase deficiency. Paediatr Anaesth 16(12):1293–1294, 2006.
    Median cleft face syndrome Various degrees of cleft face; lipomas and dermoids over frontal bone. Other intracerebral deformities are often present. Choanal atresia may be present. Assess for associated defects. Cleft nose, lip, and palate may cause intubation difficulties. Caution with instrumentation; nasal encephaloceles may be present.
    Bomelburg T, Lenz W, Eusterbrock T: Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia. Euro J Ped 146(3):301–302, 1987.
    Menkes syndrome (kinky hair disease) X-linked disorder of copper metabolism. Onset in first months of life; retarded growth and development, seizures, progressive cerebral degeneration. Gastroesophageal reflux commonly leads to pneumonia. Death from seizures or pneumonia in a few years. Assess anticonvulsant therapy (check blood levels) and optimize; continue therapy through perioperative period. Risk of acid aspiration. Prone to hypothermia. Avoid succinylcholine (neurologic disease). Phenytoin increases vecuronium requirements. Possibly use pancuronium. Postoperative ventilation may be required.
    Tobias JD: Anaesthetic considerations in the child with Menkes’ syndrome. Can J Anaesth 39(7):712–715, 1992.
    Methylmalonyl-coenzyme A mutase deficiency Autosomal recessive defect of protein metabolism. Protein metabolism leads to high plasma methylmalonic acid levels, producing lethargy, vomiting, dehydration, acidosis, ketonemia, and hyperammonemia. Treated by limiting protein intake, plus supplemental bicarbonate and cobalamin. Anesthesia and surgery may increase protein metabolism and lead to acidemia. Avoid excessive fasting or accumulation of blood in gastrointestinal tract. Maintain intravascular volume. Monitor blood gases, electrolytes, and ammonia level. Avoid nitrous oxide. (May exacerbate metabolic defect).
    Sharar SR, Haberkern CM, Jack R et al: Anesthetic management of a child with methylmalonyl-coenzyme A mutase deficiency. Anesth Analg 73(4):499–501, 1991.
    Moebius syndrome (congenital oculofacial paralysis) Congenital paralyses of sixth and seventh cranial nerves results in inability to smile. Limb deformities, micrognathia. Feeding difficulties and aspiration may cause chronic pulmonary problems. Assess respiratory status carefully. Intubation may be difficult (but not usually). May be sensitive to opioids, central apnea may occur. Monitor ventilation carefully postoperatively.
    Ames WA, Shichor TM, Speakman M et al: Anesthetic management of children with Moebius sequence. Can J Anaesth 52(8):837–844, 2005.
    Morquio syndrome (mucopolysaccharidosis type IV) Normal intellect. Severe dwarfing; aortic incompetence; kyphoscoliosis with poor lung function (cardiorespiratory symptoms and pulmonary hypertension by second decade). Unstable atlantoaxial joint leading to spinal cord compression; deafness. Inguinal hernia common. See mucopolysaccharidoses. Preoperative cardiac investigation as indicated. Care with cardiac depressant drugs. Assess respiratory status. Assess atlantoaxial stability preoperatively. Care with positioning and avoid excessive neck manipulation; may require fiberoptic intubation. Regional analgesia may be appropriate for some patients. Monitor ventilation carefully postoperatively.
    Morgan KA, Rehman MA, Schwartz RE: Morquio’s syndrome and its anaesthetic considerations. Paediatr Anaesth 12(7):641–644, 2002.
    Tobias JD: Anesthetic care for the child with Morquio syndrome: general versus regional anesthesia. J Clin Anesth 11(3):242–246, 1999.
    Mucopolysaccharidosis type VII (β-glucuronidase deficiency) Severe mental retardation. Skeletal anomalies similar to type IV. Same as type IV: preparation and anesthetic.
    Moschcowitz disease (thrombotic thrombocytopenic purpura) Hemolytic anemia and thrombocytopenia, arteriolar and capillary disease, neurologic damage, renal disease. Treatment: plasmapheresis and steroids; splenectomy for resistant cases. Assess for history of steroid therapy. Check platelet count and hemoglobin. Assess BUN/creatinine. Possible steroid supplement. Avoid IM injections. Smooth induction and intubation (prevent hypertension as might cause CNS bleed). Nasotracheal intubation contraindicated (due to risk of bleeding). Care with drugs excreted by kidneys. Platelet transfusions or fresh blood should be avoided (may exacerbate disease); transfuse with PRBC and FFP.
    Pivalizza EG: Anesthetic management of a patient with thrombotic thrombocytopenic purpura. Anesth Analg 79(6):1203–1205, 1994.
    Moyamoya disease Severe carotid artery stenosis with a fine network of vessels around the basal ganglia. Cerebral ischemia leads to paroxysmal hemiplegia. Treatment is by surgical revascularization using scalp vessels. Hypocapnia leads to severe cerebral ischemia: prevent hyperventilation, maintain normocapnia. Isoflurane may be useful as a cerebral vasodilator, propofol may provide cerebral protection. Prevent hypothermia. Maintain cerebral perfusion pressure.
    Soriano SG, Sethna NF, Scott RM: Anesthetic management of children with moya moya disease. Anesth Analg 77:1066, 1993.
    Baykan N, Ozgen S, Ustalar ZS et al: Moyamoya disease and anesthesia. Paediatr Anaesth 15(12):1111–1115, 2005.

    • Mucopolysaccharidoses

    • Type I H, I HS, II, VII

    • Type III

    • Type I S, IV, VI

    • Affects bones and intellect.

    • Affects intellect only.

    • Affects bones only.

    • See previous classifications:

    • I H: Hurler syndrome.

    • I S: Scheie syndrome; formerly classified as type V.

    • HS: Hurler-Scheie compound (See Scheie syndrome).

    • II: Hunter syndrome.

    • III: Sanfilippo syndrome.

    • IV: Morquio syndrome.

    • V: Formerly Scheie syndrome.

    • VI: Maroteaux-Lamy syndrome.

    • VII: β-Glucuronidase deficiency (See Morquio syndrome).

    All may be difficult to intubate. LMA may not relieve obstruction. Spinal cord compression may occur because of thickening of dura and odontoid hypoplasia; preoperative MRI of spinal cord suggested. Preoperative echocardiogram and ECG warranted to assess severity of cardiac dysfunction. All are subject to postobstructive pulmonary edema.
    Walker RW, Darowski M, Morris P et al: Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia 49(12):1078–1084, 1994.
    Walker RW, Colovic V, Robinson DN et al: Postobstructive pulmonary oedema during anaesthesia in children with mucopolysaccharidoses. Paediatr Anaesth 13(5):441–447, 2003.

    • Multiple endocrine adenomatoses

    • Type I

    • Type II

    • See Wermer syndrome.

    • See Sipple syndrome.

    Muscle, eye, brain disease (MEB) Muscle dystrophy, eye disease (glaucoma, strabismus, nystagmus), and mental retardation. Severe muscle weakness, secretion retention, bedridden. Caution with all muscle relaxants. Succinylcholine results in very high CK levels and should be avoided.
    Karhunen U: Serum creatine kinase levels after succinylcholine in children with “muscle, eye and brain disease.” Can J Anaesth 35:90, 1988.
    Muscle phosphofructokinase deficiency (glycogen storage disease type VII) (Tarui disease) Neither glycogen nor glucose can be used as metabolic fuels. Reduced RBC life span (13–16 days). Monitor glucose levels. Infuse dextrose. No specific anesthesia complications have been reported.
    Toscano A, Musumeci O: Tarui disease and distal glycogenoses: clinical and genetic update. Acta Myologica 26(2):105–107, 2007.
    Myasthenia congenita Similar to myasthenia gravis in older children. See page 378 . Do not use respiratory depressants or muscle relaxants: Ventilatory support may be required postoperatively. Possibility of cholinergic crisis with anticholinesterase therapy.
    White MC, Stoddart PA: Anesthesia for thymectomy in children with myasthenia gravis. Paediatr Anaesth 14(8):625–635, 2004.
    Myositis ossificans (fibrodysplasia ossificans progressiva) Bony infiltration of tendons, fascia, aponeuroses, and muscle. Thoracic involvement greatly reduces thoracic compliance: progressive respiratory failure. Risk of any further minor trauma causing progression of disease Check respiratory function, history of steroid therapy. Airway and intubation problems if neck rigid and mouth fixed. Forced manipulation of jaw may cause local progression of disease; very gentle fiberoptic intubation indicated. Avoid IM injections. Careful padding and prevent all trauma to joints and tissues. Specific recommendations at
    Tumolo M, Moscatelli A, Silvestri G: Anaesthetic management of a child with fibrodysplasia ossificans progressiva. Br J Anaesth 97(5):701–703, 2006.
    Myotonia congenita (Thomsen disease) Decreased ability to relax muscles after contraction; diffuse hypertrophy of muscle (similar to myotonia dystrophica but more benign and nonprogressive). Paradoxical response to nondepolarizing muscle relaxants possible (generalized muscle spasms); avoid succinylcholine (possible hyperkalemia). If muscle relaxants needed use short-intermediate acting agents. Use short-intermediate acting nondepolarizing muscle relaxants with caution; avoid succinylcholine; avoid inhalation anesthetics; TIVA technique recommended; use opioids with caution. Postoperative respiratory complications common due to poor cough. Regional nerve blocks for analgesia recommended.
    Russell SH, Hirsch NP: Anaesthesia and myotonia. Br Anaesth 72(2):210–216, 1994.
    Myotonia dystrophica (myotonic dystrophy, Steinert disease) Weakness and myotonia; eyelid ptosis, cataracts, frontal baldness; cardiac conduction defects and arrhythmias, possible cardiomyopathy. Reduced pulmonary function, very sensitive to respiratory depressants. Esophageal motility disorder; dysphagia and tendency to GERD and aspiration. Endocrine abnormalities (hypothyroidism, diabetes) may be present in older patients. May present in the neonate with weakness and hypotonia. Assess cardiac function: preoperative echocardiogram and ECG. Assess respiratory function. Do not use succinylcholine (which causes myotonia in 50%). Cautious use of inhalational agents as may cause myocardial depression. Monitor ECG continuously. Nondepolarizing relaxant drugs may produce poor relaxation and may interact with patients medication (i.e., phenytoin). Caution with reversal; neostigmine may induce myotonia; halothane may cause shivering and myotonia postoperatively. Extremely sensitive to respiratory depressants—use regional analgesia. Anticipate postoperative pulmonary complications; ventilatory support may be necessary.
    White RJ, Bass SP: Myotonic dystrophy and paediatric anaesthesia. Paediatr Anaesth 13(2):94–102, 2003.
    Nager syndrome Micrognathia, fishlike face, cleft palate (similar to Treacher Collins), limb deformities. Tetralogy of Fallot may be associated. Cervical spine anomalies. Assess cardiac function preoperatively; SBE prophylaxis if indicated. Very difficult intubation. Mouth opening can be very limited and intubation only possible by a fiberoptic technique. Upper airway obstruction may necessitate tracheostomy in the neonate. Postoperative ventilatory obstruction may occur; monitor carefully.
    Groeper K, Johnson JO, Braddock SR et al: Anaesthetic implications of Nager syndrome. Paediatr Anaesth 12(4):365–368, 2002.
    Nail-patella syndrome (arthro-osteoonychodysplasia) Dysplasia of nails and absent or hypoplastic patellas. Fragile teeth. May have “lilac horns” abnormality of elbows, nephropathy, increased mucopolysaccharide excretion. Vasomotor instability. Distal sensory changes. Caution with intubation (fragile teeth). Monitor heart rate and BP. Care with drugs excreted by kidneys. Position and pad carefully (abnormal muscle insertions).
    Hennessey TA, Backman SB, Meterissian SH et al: Nail-Patella syndrome: a case report and anesthetic implications. Can J Anaesth 54(10):835–839, 2007.
    Nemaline rod myopathy Congenital myopathy, may be related to central core disease. Commonly present as neonates with hypotonia, weak cry, and poor feeding. Dysmorphic features, micrognathia, slender face, high arched palate. Motor development delayed, muscle weakness of trunk and limbs plus respiratory and pharyngeal; leads to respiratory failure, aspiration pneumonia. Congenital heart disease may be associated. Preoperatively assess airway and cardiac and pulmonary status carefully. Preoperative physiotherapy and antibiotics for infection if indicated, intubation may be difficult. Brisk vagal responses noted; prescribe atropine. Possible central sensitivity to depressant drugs. Avoid succinylcholine (abnormal response); response to pancuronium is reported to be normal. Postoperative ventilation may be required. Link to central core disease suggests possibility of MH but not yet reported in nemaline myopathy. Regional analgesia may be appropriate. TIVA technique may be the best alternative.
    Cunliffe M, Burrows FA: Anaesthetic implications of nemaline rod myopathy. Can Anaesth Soc J 32(5):543–547, 1985.
    Shenkman Z, Sheffer O, Erez I et al: Spinal anesthesia for gastrostomy in an infant with nemaline myopathy. Anesth Analg 91(4):858–859, 2000.
    Neonatal hypoglycemia, symptomatic Symptomatic hypoglycemia in infants: (1) small for gestational age, (2) of diabetic mothers, (3) premature. If untreated: convulsions, lethargy, and mental retardation; no ketosis. Rarely, insulinoma or pancreatic hypertrophy requiring subtotal pancreatectomy. See also Beckwith syndrome. Start IV glucose infusion (5–10 mg/kg/min; no bolus) preoperatively and monitor blood glucose until condition stable postoperatively. (Boluses would precipitate rebound hyperglycemia.) The child may be receiving steroids, diazoxide, and glucagon.
    (N.B. Normal full-term neonates may occasionally be found to have asymptomatic “hypoglycemia” <40 mg/dl).
    Cole MD, Peevy K: Hypoglycemia in normal neonates appropriate for gestational age. J Perinatol 14(2):118–120, 1994.
    McGowan JE: Neonatal hypoglycemia. Ped Rev 20:e6-e15, 1999.
    Nevoid basal cell carcinoma syndrome See Gorlin-Goltz syndrome.

    • Niemann-Pick disease (See also Wolman disease)

    • Types A, C, D (onset in infancy)

    • Type B

    • Hepatosplenomegaly and accumulation of sphingomyelin and other lipids throughout body. Bone marrow, liver, and spleen involvement lead to anemia and thrombocytopenia. Diffuse foam cell infiltration of lungs leads to pulmonary insufficiency, pneumonia. Mental retardation. Epilepsy, ataxia. Death usually by third year (type A) to 15th year (type C).

    • Normal intellect. Pulmonary disease (foam cells in alveoli). Not fatal.

    Check coagulation studies and cardiorespiratory function. Anticipate difficulty with ventilation (pulmonary restrictive disease and ascites) and possible requirement for postoperatively ventilatory support. Caution with drugs metabolized in the liver.
    Bujok LS, Bujok G, Knapik P: Niemann-Pick disease: a rare problem in anaesthesiological practice. Paediatr Anaesth 12(9):806–808, 2002.
    Noack syndrome Craniosynostosis and digital anomalies; obesity. Intubation may be difficult because of skull deformity.
    Noonan syndrome Short stature, web neck, hypertelorism, mild mental retardation. Similar to Turner syndrome. Cardiac anomalies: usually pulmonary stenosis, hypertrophic cardiomyopathy. Micrognathia, hydronephrosis, platelet dysfunction. Preoperative evaluation of CHD. Check coagulation. Possible difficult intubation. Check BUN/creatinine; care with drugs excreted by kidneys.
    Nakagawa M, Kinouchi K, Matsunami K et al: Anesthetic management of a child with Noonan syndrome and hypertrophic obstructive cardiomyopathy. [Japanese English abstract] Masui – Jap J Anesth 55(1):92–95, 2006.
    Oculoauriculovertebral syndrome See Goldenhar syndrome.
    Oculocerebrorenal syndrome See Lowe syndrome.
    Oculodento-osseous dysplasia (ODOD) Microphthalmia and microcornea, small nose with anteverted nostrils, cleft palate, dental enamel dysplasia, plus a generalized defect of bony modeling; mandibular dysplasia, thick ribs, abnormal long bones. Airway difficulties due to nasal, oral, and mandibular defects. Brittle teeth. Difficult intubation.
    Colreavy F, Colbert S, Dunphy J: Oculodento-osseous dysplasia: a review of anaesthetic problems. Paediatr Anaesth 4:179, 1994.
    Oculofacial paralysis, congenital See Moebius syndrome.
    Ollier syndrome See also Maffucci syndrome (enchondromatosis with cavernous hemangioma). Multiple chondromas within bones, usually unilateral; pathologic fractures Position carefully. Hemangioma considerations as for Maffucci syndrome.
    Opitz-Frias syndrome (G syndrome, hypospadias, dysphagia syndrome) X-linked or autosomal dominant, affects males more than females. Craniofacial and genital abnormalities (bifid scrotum). Dysphagia and recurrent aspiration, achalasia, hiatal hernia. Hypertelorism, micrognathia, and a high arched palate. Laryngeal malformations (including laryngotracheal cleft and subglottic stenosis) and pulmonary hypoplasia. Difficult airway, small larynx (prepare small endotracheal tubes). Danger of regurgitation; empty stomach before induction.
    Bolsin SN, Gillbe C: Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. Anaesth 40(12):1189–1193, 1985.
    Oral-facial-digital syndrome (Mohr syndrome) Cleft lip and palate, lobed tongue, hypoplastic mandible and maxilla, digital anomalies; hydrocephalus, polycystic kidneys. Possible tracheo- laryngomalacia. Corpus callosum anomaly (may result in delayed recovery from anesthesia). Assess respiratory status. Airway problems and intubation may be difficult; assess BUN/creatinine; possible renal impairment; caution with drugs excreted by the kidneys.
    Gercek A, Dagcinar A, Ozek MM: Anesthetic management of a newborn with Mohr (oro-facial-digital type II) syndrome. Paediatr Anaesth 17(6):603–604, 2007.
    Osler-Rendu-Weber syndrome (hemorrhagic telangiectasia) Multiple capillary and venous dilation, most commonly of skin and nasal mucosa, but any organ may be affected. High incidence of pulmonary and hepatic AV fistula. Anemia; internal hemorrhage may occur perioperatively. Blood loss difficult to control. Difficult to maintain IV due to fragile vessels. Check pulmonary status. Positive pressure ventilation may decrease oxygenation in patients with pulmonary AV malformation.
    Sharma D, Pandia MP, Bithal PK: Anaesthetic management of Osler-Weber-Rendu syndrome with coexisting congenital methaemoglobinaemia. Acta Anaesth Scand 49(9):1391–1394, 2005.
    Osteogenesis imperfecta (fragilitas ossium)

    • I.

      Congenita—Usually stillbirth or rapidly fatal.

    • II.

      Tarda—Pathologic fractures, blue sclera, deafness. Osteoporosis → kyphoscoliosis → lung pathology. Fragility of vessels results in subcutaneous hemorrhage. Dentine deficiency results in carious, fragile teeth.

    Use extreme care in positioning (to prevent breaking bones) and intubating. Teeth are easily broken. Difficulty in maintaining IV due to fragile vessels. Intraoperative hyperthermia (not MH) has been described in patients receiving inhaled anesthetics; temperature remains unchanged or may decrease during TIVA.
    Karabiyik L, Capan Z: Osteogenesis imperfecta: different anaesthetic approaches to two paediatric cases. Paediatr Anaesth 14(6):524–525, 2004.
    Osteopetrosis See Albers-Schönberg disease.
    Paramyotonia congenita (Eulenburg periodic paralysis) Myotonia on exposure to cold; paroxysmal weakness; serum K + may be high or low Check serum K + level. Unpredictable response to nondepolarizing muscle relaxants; avoid succinylcholine. (See also myotonic dystrophy).
    Ay B, Gercek A, Dogan VI et al: Pyloromyotomy in a patient with paramyotonia congenita. Anesth Analg 98(1):68–69, 2004.
    Patau syndrome (trisomy 13 syndrome) Mental retardation, microcephaly, micrognathia, cleft lip or palate. May have cardiac anomalies (usually ventricular septal defect and/or dextrocardia). Patients die in infancy. Preoperative echocardiogram and EKG, SBE prophylazis if indicated. Possible difficult intubation.
    Pollard RC, Beasley JM: Anaesthesia for patients with trisomy 13 (Patau’s syndrome). Paediatr Anaesth 6:151, 1996.
    Pelizaeus-Merzbacher disease See leukodystrophy.
    Pendred syndrome Deafness and goiter; incomplete block of thyroxine production. May be euthyroid or hypothyroid. Preoperatively ensure that patient is euthyroid; otherwise as for cretinism.
    Fraser GR, Morgans ME, Trotter WR: The syndrome of sporadic goitre and congenital deafness. Queensland J Med 29:279, 1960.
    Periodic paralysis See familial periodic paralysis and paramyotonia congenita.
    PHACE syndrome Posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta, eye defects. May be associated with bilateral agenesis of the carotid arteries, cerebral perfusion via the vertebral arteries. Airway hemangioma may be present. Renal artery stenosis may cause hypertension. Assess cardiac status preoperatively. Risk of cerebral ischemia, CVA. Review vascular anatomy carefully. Monitor cerebral function. Hypertension may need therapy.
    Javault A, Metton O, Raisky O et al: Anesthesia management in a child with PHACE syndrome and agenesis of bilateral internal carotid arteries. Paediatr Anaesth 17(10):c989–993, 2007.
    Phenylketonuria Phenylalanine hydroxylase deficiency. Vomiting, CNS irritability, mental retardation, hypertonia, convulsions. Phenylalanine-deficient diet must be maintained; may present with megaloblastic anemia if poorly controlled. Induction and maintenance by inhalation technique. Control ventilation. Give dextrose infusion and monitor glucose levels perioperatively (tendency to hypoglycemia). Ensure adequate phenylalanine and hemoglobin concentration (no megaloblastic anemia) preoperatively: otherwise, avoid nitrous oxide. Sensitive to opioids and other CNS depressants; monitor body temperature carefully. If patient has epilepsy, continue drugs.
    Dal D, Celiker V: Anesthetic management of a strabismus patient with phenylketonuria. Paediatr Anaesth 14(8):701–702, 2004.
    Pierre Robin syndrome Cleft palate, micrognathia, glossoptosis due to first branchial arch embryologic defect. CHD may be present. Neonates: upper airway obstruction may occur and can lead to cor pulmonale. Maintain airway by nursing prone on a frame: may require tongue suture, intubation, or tracheostomy. Micrognathia and airway improve with growth. Assess for cardiac defect preoperatively. Intubation may be extremely difficult. Fiberoptic intubation techniques should be anticipated; topical airway analgesia with nebulized lidocaine will facilitate awake insertion of an LMA, used to induce anesthesia, and as a conduit for intubation. The child should be fully awake before extubation.
    Asai T, Nagata A, Shingu K: Awake tracheal intubation through the laryngeal mask in neonates with upper airway obstruction. Paediatr Anaesth 18(1):77–80, 2008.
    Plott syndrome Vocal cord paralysis, psychomotor retardation, and sixth nerve palsy. Stridor at rest, respiratory distress, and cyanotic or choking spells. Anticipate airway obstruction and potential for aspiration perioperatively.
    Poland syndrome Absent pectoral muscles with chest deformity. Ipsilateral syndactyly or microdactyly. May have CHD, renal and gastrointestinal anomalies. Extreme form: Moebius syndrome has facial paralysis. Lung herniation on crying: paradoxical movement of chest wall on inspiration. Assess preoperatively for cardiac and renal disease. Controlled ventilation is recommended due to the chest deformity.
    Sethuraman R, Kannan S, Bala I et al: Anaesthesia in Poland syndrome. Can J Anaesth 45(3):277–279, 1998.
    Polyarteritis nodosa See collagen disease.
    Polycystic kidneys Associated cysts in liver, pancreas, spleen, lungs, bladder, thyroid in one third; cerebral aneurysm in 15%. Preoperatively, assess renal function. Lung cysts may lead to pneumothorax; prevent high peak inflation pressures. Prevent hypertension (possible associated cerebral aneurysm).
    Polyneuritis, acute See Guillain-Barré syndrome.
    Pompe disease (glycogen storage disease type II)

    • Deposits of glycogen in muscles, severe hypotonicity; large tongue; massive cardiomegaly. Death from cardiorespiratory failure before 2 yr of age. Recently replacement therapy with recombinant human α-glucosidase enzyme (rhGAA) has proven effective in extending the life span.

    Preoperatively assess cardiac function: echocardiogram and EKG, SBE prophylaxis if indicated. Extreme care required: use respiratory or cardiac depressants or muscle relaxants with caution; etomidate and ketamine are recommended agents. Large tongue may cause airway problem. Maintain intravascular volume. Monitor ECG for rhythm and ST segment changes; serious arrhythmias may occur. TIVA is recommended.
    Ing RJ, Cook DR, Bengur RA et al: Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. Paediatri Anaesth 14(6):514–519, 2004.
    Porphyrias Paralysis, psychiatric disorder, autonomic imbalance—hypertension, tachycardia; abdominal pain precipitated by drugs, stress, infection, etc. High incidence of diabetes.

    • Avoid prolonged fasting and dehydration. Do not give barbiturates (including thiopental) and certain other IV agents (i.e., etomidate, some sedatives and, nikethamide, hydantoin, derivatives, sulfonamides, antipyretics, or hypoglycemic agents). See Jensen et al (ref below) for drug concerns in porphyria.

    • The following have been used safely: atropine, glycopyrrolate, propofol (brief exposure), succinylcholine, N 2 O, sevoflurane, vecuronium, atracurium, cisatracurium, fentanyl, morphine, epinephrine, neostigmine, chloral hydrate, chlorpromazine, and bupivacaine.

    Jensen NF, Fiddler DS, Striepe V: Anesthetic considerations in porphyrias. Anesth Analg 80:591–599, 1995.
    Sheppard L, Dorman T: Anesthesia in a child with homozygous porphobilinogen deaminase deficiency: a severe form of acute intermittent porphyria. Paediatr Anaesth15(5):426–428, 2005.
    Prader-Labhart-Willi syndrome Sporadic mutation. Cytogenetic deletion at chromosome inherited from father (same genetic defect in Angelman syndrome is inherited from mother). Hypothalamic type “Pickwickian syndrome.” Neonate: hypotonia, poor feeding, reflexes absent. Second phase: hyperactive, uncontrollable polyphagia, thermoregulation disturbed, mental retardation. Extreme obesity leading to cardiorespiratory failure. Danger of hypoglycemia developing: monitor blood glucose carefully and infuse IV glucose solution before, during, and after anesthesia. Obesity makes venous cannulation difficult. Low-grade pyrexia may occur during scoliosis, strabismus, or hernia surgery. No relationship to MH. Hypothermia may also occur. Sleep apnea common: assisted or controlled ventilation may be necessary during and after operation, or apnea monitoring postoperatively. Beware of postoperative airway obstruction; nasal CPAP may improve airway. Regional analgesia may be appropriate in some patients for intraoperative management and/or postoperative pain.
    Dearlove OR, Dobson A, Super M: Anaesthesia and Prader-Willi syndrome. Paediatr Anaesth 8(3):267–271, 1998.
    Progeria (Hutchinson- Gilford syndrome) Premature aging starts at 6 mo to 3 yr; cardiac disease-ischemia, hypertension, cardiomegaly. Diabetes may be present. Death from coronary artery disease may occur before 10 yr of age. Carefully assess cardiac status preoperatively particularly evidence of coronary artery disease and myocardial ischemia. Intubation may be difficult because of small mouth and receding mandible. Anesthesia as for adults with coronary artery disease and myocardial ischemia.
    Capell BC, Collins FS, Nabel EG: Mechanisms of cardiovascular disease in accelerated aging syndromes. Circ Res 101(1):13–26, 2007.
    Liessmann CD: Anaesthesia in a child with Hutchinson-Gildford progeria. Paediatr Anaesth 11(5):611–614, 2001.
    Proteus syndrome A highly variable disease with progressive overgrowth of connective tissues, bone, skin lesions (nevi), and abnormal distribution of fat. Cystic lung lesions. Scoliosis is common. The neck may be elongated and twisted because of vertebral deformities. Vascular malformations may be present and pulmonary emboli without venous thrombosis have been reported. Check preoperative chest x-ray for cystic lesion. If present, avoid N 2 O and high peak inflation pressures; possible pneumothorax. Caution with airway— intubation may be very difficult. Postoperative airway obstruction may occur—monitor ventilation carefully.
    Cekmen N, Kordan AZ, Tuncer B et al: Anesthesia for proteus syndrome. Paediatr Anaesth 14(8):689–692, 2004.
    Prune-belly syndrome Agenesis of abdominal musculature with renal anomalies. Poor cough; risk of postoperative atelectasis, respiratory infections, and respiratory failure. Preoperatively assess renal function. Treat as for a full stomach: intubate and control ventilation. (But intubation may be difficult in some, so assess carefully). Use muscle relaxants and drugs excreted by kidneys with caution. Thoracic epidural useful for postoperative analgesia and may prevent respiratory compromise.
    Baris S, Karakaya D, Ustun E et al: Complicated airway management in a child with prune-belly syndrome. Paediatr Anaesth 11:501–504, 2001.
    Henderson AM, Vallis CJ, Sumner E: Anaesthesia in the prune-belly syndrome. A review of 36 cases. Anaesth 42(1):54–60, 1987.
    Pseudohypoparathyroidism See Albright osteodystrophy.
    Pseudoxanthoma elasticum See Grönblad-Strandberg syndrome.
    Pyle disease (metaphyseal dysplasia) Craniofacial abnormalities; enlarged mandible; cranial nerve paralyses. Assess airway carefully; possible difficult intubation.
    Rett syndrome Disabling neurologic disorder affecting only females. Underweight, mental retardation, autism, seizures, scoliosis, abnormal pain sensation, vasomotor instability, cardiac arrhythmias (long QT syndrome), marked irregular respiration: hyperventilation alternating with apneic spells. Preoperative ECG. Assess pulmonary function carefully. Severe risk of respiratory complications. Often present for spinal surgery for scoliosis. SSEPs can be monitored but MEPs may be contraindicated if history of seizures. Postoperatively, apnea monitoring or ventilatory support needed. Insensitive or hypersensitive to pain. May be sensitive to respiratory depressant drugs. Benzodiazepines to control seizures. Cautions as for long QT syndrome; prevent tachycardia.
    Dearlove OR, Walker RW: Anaesthesia for Rett syndrome. Paediatr Anaesth 6(2):155–158, 1996.
    Reye syndrome Severe metabolic encephalopathy and fatty degeneration of viscera (especially liver): hyperaminoacidemia; increased prothrombin time, blood ammonia, serum transaminases. Suspected cofactor is ingestion of ASA (aspirin) during prodromal illness. Most reliable diagnosis is by liver biopsy. If untreated, increased ICP is usually fatal. Anesthetize for investigation of and decompression of increased ICP. Patient may be receiving steroids and controlled hypothermia. Avoid drugs metabolized by liver. Control ventilation and continue hypothermia and all supportive measures.
    Rheumatoid arthritis See collagen diseases.
    Rieger syndrome Hypodontia, malformations of anterior chamber of eye, myotonic dystrophy. May have other developmental abnormalities including maxillary hypoplasia. Possible difficult airway. Avoid succinylcholine; use nondepolarizing muscle relaxants with caution (unpredictable response). Anesthetic requirements dictated by muscle disease: See also amyotonia congenita, myotonia congenita, myotonia dystrophica.
    Asai T, Matsumoto H, Shingu K: Difficult airway management in a baby with Axenfeld-Rieger syndrome. Paediatr Anaesth 8(5):444, 1998.
    Riley-Day syndrome (familial dysautonomia) Recessive disorder of autonomic ganglia and sensory neurones found in Ashkenazi Jews. Deficiency of dopamine-β-hydroxylase: autonomic dysfunction and decreased sensation, paroxysmal hypertension, and orthostatic hypotension. Emotional lability, absent lacrimation, abnormal sweating, poor sucking and swallowing. Recurrent aspiration pneumonia and chronic lung disease. Dysautonomic crisis (vomiting, profuse sweating, heart rate and hemodynamic instability) can occur in response to stress. Avoid prolonged fasting. Premedication with midazolam and H 2 -receptor antagonist. Parental presence may help. Atropine can be given. Require IV hydration; replace fluid losses carefully to maintain volume status (monitor CVP if extensive blood loss is anticipated). Sensitive to anesthetic agents: titrate inhalational agents to effect; can use barbiturates, propofol, etomidate, opioids, and relaxants. Respiratory center unresponsive to CO 2 : use opioids with caution, may require postoperative ventilation. Risk of aspiration, postoperatively and at induction. Diazepam often controls an autonomic crisis, ranitidine for gastric acidity, and clonidine may be useful to manage postoperative hypertension. Epidural anesthesia was thought to be contraindicated but has been used uneventfully in a few cases with increased cardiovascular stability and superior analgesia reported. Caution with eyes, lubricate and cover.
    Ngai J, Kreynin I, Kim JT et al: Anesthesia management of familial dysautonomia. Paediatr Anaesth 16(6):611–620, 2006.
    Robin Pierre syndrome See Pierre Robin syndrome.
    Robinow syndrome (fetal face syndrome) Limb-shortening, facial (midface hypoplasia), and spinal deformities, CHD, renal disease, and hypoplastic genitalia. May be associated with Crigler-Najjer liver disease. (Both diseases a result of consanguinity.) Preoperatively, assess cardiac, renal, and liver (if Crigler-Najjer suspected) function. If Crigler-Najjer is present, evaluate coagulation status. Caution with airway recommended, but usually not difficult.
    Lirk P, Rieder J, Schuerholz A et al: Anaesthetic implications of Robinow syndrome. Paediatr Anaesth 13(8):725–727, 2003.
    Romano-Ward syndrome See Jervell and Lange-Nielsen syndrome.
    Rubinstein-Taybi syndrome Broad thumb and great toes, mental retardation, microcephaly. May have CHD (usually pulmonary stenosis), frequent chest infections, repeated aspiration leading to pneumonia and chronic lung disease. Estimated frequency: 1 of every 500 institutionalized mentally retarded persons. Preoperative assessment for cardiac and pulmonary diseases. Anticipate difficult intubation. Caution with respiratory depressants. Beware of postoperative ventilatory depression or apnea.
    Altintas F, Cakmakkaya S: Anesthetic management of a child with Rubinstein-Taybi syndrome. Paediatr Anaesth 14(7):610–611, 2004.
    Russell-Silver syndrome See Silver-Russell dwarfism.
    Sandhoff disease See gangliosidosis GM2.
    Saethre-Chotzen syndrome Acrocephalosyndactyly III premature closure of cranial sutures with syndactyly hands and feet. Hypoplastic maxilla, hypertelorism, malformed ears may be present. Intelligence usually normal. Caution with airway. No other special considerations.
    Easely D, Mayhew JF: Anesthesia in a child with Saethre-Chotzen syndrome. Paediatr Anaesth 18(1):81, 2008.
    Sanfilippo syndrome (mucopolysaccharidosis type III) CNS malfunction in childhood progresses to mental retardation and dementia. Emotional disturbance and agitation. No hepatosplenomegaly, cardiac problems, or major bone problems. See mucopolysaccharidoses. No other specific anesthesia problems described.
    Sanjad-Sakati syndrome (SSS)

    • Congenital hypoparathyroidism, hypocalcemia, hyperphosphatemia, seizures, dwarfism, mental retardation, and dysmorphic features. Recurrent pulmonary infections.

    • Confined to children of Arab descent.

    Assess respiratory status carefully and check electrolytes and ionized calcium preoperatively. Airway and intubation may be difficult. Use short-acting drugs. Monitor postoperative respiratory status.
    Platis CM, Wasersprung D, Kachko L et al: Anesthesia management for the child with Sanjad-Sakati syndrome. Paediatr Anaesth 16(11):1189–1192, 2006.
    Scheie syndrome (mucopolysaccharidosis type IS, formerly classified as type V) Normal or almost normal intellect. Corneal clouding, hernias; joint stiffness, especially of hands and feet; aortic insufficiency. Sleep apnea may occur.

    • Preoperatively evaluate cardiac status.

    • See mucopolysaccharidoses. Monitor carefully for apnea. Position with care.

    Perks WH, Cooper RA, Bradbury S et al. Sleep apnea in Scheie syndrome. Thorax 35, 85, 1980.
    Schwartz-Jampel syndrome Dwarfism, microstomia, myotonia limiting joint movement, bowing of long bones, thermoregulatory disorder. Usually normal intellect (some degree of mental retardation in 25%). Difficult intubation. Larynx may be anterior. Awake LMA-assisted fiberoptic intubation has been recommended. Succinylcholine contraindicated; possible abnormal response to nondepolarizing relaxants, avoid inhalation agents. (See also myotonia and paramyotonia.)
    Ray S, Rubin AP: Anaesthesia in a child with Schwartz-Jampel syndrome. Anaesthesia 49(7):600–602, 1994.
    Scleroderma Diffuse cutaneous stiffening. May have hemifacial atrophy. Plastic surgery required for contracture and constrictions. May have cardiac fibrosis or cor pulmonale (rare in children—but common cause of death). Esophageal dilation leads to GERD. Children have less multiple organ involvement than adults— more arthritis and myositis. Raynaud phenomena may rarely be present. Therapy may include steroids, methotrexate, Ca ++ channel blockers. Preoperatively assess cardiac function. Check history of steroid therapy and other drug history. Scarring of face and mouth—possible difficult airway and intubation. Chest restriction—poor compliance. Diffuse pulmonary fibrosis—hypoxia. Veins may be invisible, impalpable, difficult to enter. Prevent hypothermia.
    Zulian F: Systemic sclerosis and localized scleroderma in childhood. Rheum Dis Clin N Am 34(1):239–255, 2008.
    Roberts JG, Sabar R, Gianoli JA et al: Progressive systemic sclerosis: clinical manifestations and anesthetic considerations. J Clin Anesth 14(6):474–477, 2002.
    Sebaceous nevi syndrome, linear Linear nevi from forehead to nose; hydrocephalus, mental retardation; may have coarctation and/or hypoplasia of aorta. Assess cardiac status as indicated. May have increased ICP.
    Seckel syndrome Autosomal recessive disorder, mental retardation, dwarfism, microcephaly (“Birdlike” facies), prominent maxilla, micrognathia, pointed nose. Check airway carefully; prepare for difficult mask ventilation, intubation, and venous access.
    Gurkan Y, Hosten T, Dayioglu H et al. Anesthesia for Seckel syndrome. Pediatr Anesth 16:359–360, 2006.
    Seip syndrome See lipoatrophy with diabetes.
    Shy-Drager syndrome Orthostatic hypotension; diffuse degeneration of central and autonomic nervous systems; lability of pulse and blood pressure possibly because of defective baroreceptor response; decreased sweating; hypersensitivity to catecholamines and angiotensin. Caution with potent inhalation anesthetics; accurate fluid replacement important; treat hypotension with IV fluids and phenylephrine; vasopressin may be the best agent to treat refractory hypotension. Use muscle relaxants with caution.
    Hutchinson RC, Sugden JC: Anaesthesia for Shy-Drager syndrome. Anaesthesia 39(12):1229–1231, 1984.
    Vallejo R, DeSouza G, Lee J: Shy-Drager syndrome and severe unexplained intraoperative hypotension responsive to vasopressin. Anesth Analg 95:50–52, 2002.
    Silver-Russell dwarfism Short stature, skeletal asymmetry, micrognathia. Low birth weight. Café au lait spots, endocrine abnormalities, hypogonadism. Wilms tumor in 10%. Check endocrine status (esp adrenal). Possible difficult mask ventilation and intubation. Monitor blood glucose level. Prone to hypothermia. Caution with relaxants; monitor block. (See page 383 for Wilms tumor .)
    Dinner M, Goldin EZ, Ward R et al: Russell-Silver syndrome: anesthetic implications. Anesth Analg 78(6):1197–1199, 1994.
    Sipple syndrome (multiple endocrine adenomatosis (MEN2) type 2) Three forms: MEN 2A, Familial medullary thyroid carcinoma and MEN 2B. Pheochromocytoma more common in 2A and 2B (bilateral in 75% of cases), medullary thyroid carcinoma, parathyroid adenoma (common in MEN 2A), multiple endocrine neoplasia. MEN 2B also presents with mucocutaneous neuromas and muscular hypotonia. See pheochromocytoma. See page 380 . Problem of multiple endocrine disorders. For MEN 2B, evaluate for presence of muscular hypotonia before considering muscle relaxants.
    Sleep apnea syndromes See also Chubby puffer syndrome. Disorders of breathing during sleep, including the following:

    • (1)

      Central sleep apnea due to CNS immaturity (sudden infant death syndrome), trauma, infections, or neoplasms, and primary central alveolar hypoventilation (Ondine curse). Apnea occurs without evidence of respiratory muscle activity.

    • (2)

      Obstructive sleep apnea due to obesity, adenotonsillar hypertrophy, Pierre Robin syndrome, or any other condition causing chronic airway obstruction. Apnea occurs because of obstruction and is accompanied by increased respiratory muscle activity. Response to CO 2 is decreased. Ventilatory depression with opiates is markedly increased and opiate requirements for analgesia decreased.

    • (3)

      Mixed forms. Medical history may include daytime somnolence, loud snoring, restless sleep, insomnia, fatigue. Children may be hyperactive and aggressive.

    Review sleep study if done with attention to severity of nocturnal desaturation (Nadir <90 = caution). Assess airway carefully. Avoid preoperative sedation. Intubate and ventilate during anesthesia. Beware of acute obstruction during induction of anesthesia. Intubation may be difficult. Caution with opioids during and after anesthesia. Awaken patient completely before transfer to postanesthesia care unit (PACU). Monitor closely for apnea postoperatively. (See Chapter 10 for sleep apnea strategy during anesthesia).
    Bandla P, Brooks LJ, Trimarchi T et al: Obstructive sleep apnea syndrome in children. Anesth Clinics N Am 23(3):535–549, 2005.
    Smith-Lemli-Opitz syndrome Inborn error of cholesterol synthesis. Microcephaly, mental retardation, genital and skeletal anomalies (including micrognathia), thymic hypoplasia, hypotonia; may have increased susceptibility to infection. Use sterile technique. Airway and intubation problems. Use muscle relaxants with caution. Muscle rigidity with inhalational anesthetics has been described, but this disease is not associated with MH and has not been associated with rhabdomyolysis. Consider TIVA.
    Quezado ZM, Veihmeyer J, Schwartz L et al: Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome. Anesthesiology 97(4):1015–1019, 2002.
    Sotos syndrome (cerebral gigantism) Macrocephaly, dilated cerebral ventricles but normal ICP. Developmental delay. Hypotonia. Accelerated growth during childhood. Prone to hernias. Cardiac and GU abnormalities in a few patients. Reduced immune response. Preoperative echocardiogram and EKG, SBE prophylazis if indicated. Care with asepsis. Intubation reported to be easy. Care with padding and positioning head. Hyperthermia during anesthesia is reported (not MH); monitor temperature and institute cooling as indicated.
    Adhami EJ, Cancio-Babu CV: Anaesthesia in a child with Sotos syndrome. Paediatr Anaesth 13(9):835–840, 2003.
    Stevens-Johnson syndrome (erythema multiforme) Urticarial lesions; erosions of mouth, eyes, genitalia. Possible hypersensitivity to exogenous agents (drugs, infections, etc.). If pleural blebs are present, pneumothorax may occur. Dehydration and malnutrition are common. May have myocarditis, pericarditis. Medical care is similar to that of children with a burn injury; some may be on high- dose steroid therapy. Preoperatively, assess cardiac status, fluid status, and pulmonary function. Check for recent steroid therapy. Use sterile technique (reverse isolation). Oral lesions—avoid intubation and insertion of esophageal stethoscope, gentle pharyngeal suctioning. Use soft face mask with Vaseline gauze on skin. If intubation is required, secure tracheal tube with tracheostomy tape that is well padded; do not use adhesive tape. Monitoring is difficult (because of skin lesions) but essential; cover ECG pads with surgical lubricant and place beneath the patient. Warm the operating room to approximately 35–37 °C; danger of severe hypothermia. Monitor closely; serious arrhythmias and ventricular fibrillation may occur. IV infusion essential but avoid cutdowns if possible (possibility of infection). Ketamine is probably the best anesthetic agent.
    Smith GB, Shribman AJ: Anaesthesia and severe skin disease. Anaesthesia 39(5):443–455, 1984.
    Stickler syndrome Autosomal dominant disorder with midface hypoplasia, retromicrognathia, cleft palate, and “Moon-face” appearance. Progressive myopia and retinal degeneration. Anesthesia problems similar to Pierre Robin patients. Airway maintenance and intubation may be very difficult.
    Kucukyavuz Z, Ozkaynak O, Tuzuner AM et al: Difficulties in anesthetic management of patients with micrognathia: report of a patient with Stickler syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endodont 102(6):e33–e36, 2006.
    Stiff baby syndrome (hyperexplexia, “startle disease”) Rare, genetic syndrome. Severe muscle rigidity appears at birth and persists for several years. Exaggerated startle response is present. Life- threatening spasms may be terminated by flexing the head and legs toward the trunk. Choking, vomiting, and difficulty swallowing may occur. EMG shows continuous muscle activity. Use caution with muscle relaxants; monitor effects carefully. (Sevoflurane may cause fade on TOF monitor.) May be resistant to succinylcholine but have normal response to nondepolarizing muscle relaxants. Effect of neostigmine is normal. Opioids increase rigidity. Propofol may be appropriate. Monitor for perioperative apnea.
    Garg R, Ramachandran R, Sharma P: Anaesthetic implications of hyperekplexia—’startle disease’. Anaesth Intens Care 36(2):254–256, 2008.
    Still disease (juvenile rheumatoid arthritis) See collagen diseases.
    Sturge-Weber syndrome Cavernous angioma over trigeminal nerve distribution, usually unilateral. Developmental mesodermal capillary defect. Glaucoma. Intracranial calcification, convulsions, mental retardation. Possible laryngeal and tracheal involvement. Often have port wine stains treated. Care with instrumentation of larynx in case of undiagnosed angioma. Care to prevent hypertension or raised intraocular pressure during intubation or extubation. Often treated with repeat laser therapy. No other specific anesthetic problems.
    Batra RK, Gulaya V, Madan R et al: Anaesthesia and the Sturge-Weber syndrome. Can J Anaesth 41(2):133–136, 1994.
    Supravalvar aortic stenosis with idiopathic infantile hypercalcemia See Williams syndrome.
    Tangier disease (analphalipoproteinemia) Low plasma high density lipoproteins; accumulation of cholesterol esters in large orange tonsils, spleen, and lymph nodes. Anemia and thrombocytopenia. Peripheral neuropathy and abnormal EMG; premature coronary disease (lipid deposits found in coronary arteries of a 6 year old). Preoperatively assess cardiac/coronary arteries; Hb and platelet counts. Use caution with cardiac depressants and muscle relaxants. Monitor for cardiac ischemia. (No reports of ischemic heart disease in children.)
    Mentis SW: Tangier disease. Anesth Analg 83(2):427–429, 1996.
    Tay-Sachs disease See gangliosidosis GM2.
    Thomsen disease See myotonia congenita.
    Telangiectasis, hemorrhagic See Osler-Rendu-Weber syndrome.
    Thalassemia major (Cooley anemia) Hereditary disease—may affect any race, but most common in Mediterranean and Southeast Asia.
    Slow rate of Hb synthesis—high percentage of HbF is present. Low Hb levels require repeated transfusion leading to hemosiderosis.
    Preoperatively assess cardiac function. Hemosiderosis may affect heart and hepatic function. Anemia may be severe. Facial deformity—overgrowth of maxilla may cause difficult intubation. Anesthesia considerations for the anemic patient (see page 180 ).
    Heterozygous form (thalassemia minor) poses no special anesthesia problems.
    Thromboasthenia See Glanzmann disease.
    Thrombocytopenia with absent radius Episodic thrombocytopenia precipitated by stress, infection, surgery, etc. Platelets increase to normal by adulthood. CHD in 30% of cases. Preoperatively assess cardiac function if CHD present. Platelet transfusion for surgery or bleeding. Avoid elective surgery in first year (35%-40% mortality from intracranial hemorrhage).
    Hall JG, Levin JP, Kuhn JP et al: Thrombocytopenia with absent radius. Medicine (Baltimore) 48:411, 1969.
    Thrombocytopenia with eczema and repeated infections See Wiskott-Aldrich syndrome.
    Thrombotic thrombocytopenic purpura See Moschcowitz disease.
    Tourette syndrome Complex neuropsychiatric disorder with onset in childhood. Attention deficit disorder progresses to spasmodic repetitious movements that may become powerful muscle jerks. Patient also may exhibit coprolalia (profane speech) and echolalia (repetitions). Treated with haloperidol, clonidine, or pimozide. Establish rapport with patient and family. Continue medications. Sedate preoperatively. No specific anesthesia regimen is indicated, except that pimozide may cause prolonged Q-T interval syndrome (see page 47 ).
    Morrison JE Jr, Lockhart CH: Tourette syndrome: anesthetic implications. Anesth Analg 65(2):200–202, 1986.
    Treacher-Collins syndrome (mandibulofacial dysostosis) Micrognathia, aplastic zygoma, microstomia, choanal atresia, coloboma of eyelids. Patients often have cleft palate and cardiac anomalies. Very like Pierre Robin syndrome. Preoperatively assess cardiac function and airway. Possible very difficult mask airway and difficult tracheal intubation. LMA can be useful in facilitating fiberoptic intubation. Some children require tracheotomy.
    Inada T, Fujise K, Tachibana K et al: Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome. Paediatr Anaesth 5:129, 1995.
    Nargozian CN: The airway in patients with craniofacial abnormalities. Pediatr Anesth 14:53–59, 2004.
    Trismus-pseudocamptodactyly (Dutch-Kentucky syndrome) Autosomal dominant condition. Decreased mouth opening due to enlarged coronoid process of the mandible and/or abnormal ligaments plus flexion deformity of the fingers when wrist is extended. Short stature and foot deformities may occur. May present for surgery to mandible. Extremely difficult intubation. May require blind nasal or fiberoptic technique.
    Browder FH, Lew D, Shahbazian TS: Anesthetic management of a patient with Dutch-Kentucky syndrome. Anesthesiology 65(2):218–219, 1986.
    Vaghadia H, Blackstock D: Anaesthetic implications for the trismus pseudocampodactyly (Ducth-Kentucky or Hecht Beals) syndrome. Can J Anesth 35:80–85, 1988.

    • Trisomies

    • Trisomy 13

    • Trisomy 18[E]

    • Trisomy 21

    • See Patau syndrome.

    • See Edwards syndrome.

    • See Down syndrome.

    Tuberous sclerosis Neurocutaneous condition with hamartoma growth in body. Multisystem disease: sebaceous adenoma of skin, epilepsy, mental retardation, intracranial calcification, seizures. May have tumors in brain, lungs, and kidneys; pyelonephritis and renal failure may occur. Cardiac rhabdomyomas are benign but may occur in up to 90% of neonates. These tumors tend to remain the same in size (as the heart grows less important) or resolve spontaneously. Preoperatively assess renal and cardiac function indicated; cardiac tumors tend to resolve spontaneously but may cause right outflow tract obstruction, particularly in infants. Care with drugs excreted by kidney. Possible cardiac arrhythmia and rupture of lung cysts. Anesthetic management depends on preoperative examination and limitations of organ functions found. Maintain normothermia and normocarbia to prevent seizures. Check anticonvulsant levels postoperatively.
    Diaz JH: Perioperative management of children with congenital phakomatoses. Pediatr Anesth. 10:121–128, 2000.
    Turner syndrome (gonadal dysgenesis) XO females. Short stature, infantile genitalia, webbed neck; possible micrognathia. CHD coarctation, dissecting aneurysm of aorta or PS. Hypothyroidism in some cases. Renal anomalies in more than 50% of cases. Preoperatively assess cardiac and renal function. Intubation may be difficult. Care with drugs excreted by kidneys.
    Loscalzo ML: Turner syndrome. Ped Rev 29(7):219–227, 2008.
    Mashour GA, Sunder N, Acquadro MA: Anesthetic management of Turner syndrome: a systematic approach. J Clin Anesth 17(2):128–130, 2005.
    Umbilical hernia in infancy Be alert to possibility of Beckwith syndrome.
    Urbach-Wiethe disease (cutaneous mucosal hyalinosis) Hoarseness or aphonia (hyaline deposits in larynx and pharynx) and skin eruption. Tongue may be thickened. Mucous membranes thickened, dry, and friable. Intracranial calcification and epilepsy may develop. Avoid anticholinergics (excessive drying). Gentle laryngoscopy and intubation to prevent mucosal trauma. Vocal cords may be thickened. Airway and intubation may be difficult; requiring fiberoptic intubation. If epilepsy is diagnosed, halothane, isoflurane, and TIVA are the preferred anesthetics.
    Kelly JE, Simpson MT, Jonathan D et al: Lipoid proteinosis: Urbach-Wiethe disease. Br J Anaesth 63(5):609–611, 1989.
    VATER association (VACTERL association) A nonrandom association of defects: V-vertebral anomalies (congenital scoliosis); A-anal atresia; T-tracheoesophageal fistula; E-esophageal atresia; R-renal anomalies; (C-cardiac disease and L-limb defects also in VACTERL). Examine neonates with any of these features carefully for other congenital lesions. Preoperatively assess cardiac and renal function. Anesthesia management dictated by considerations of individual lesions.
    Bleicher MA, Melmed AP, Bogaerts XV et al: VATER association and unrecognized bronchopulmonary foregut malformation complicating anesthesia. Mt Sinai J Med 50(5):435–438, 1983.
    Velocardiofacial syndrome A phenotypic variant of the 22q deletion syndrome. Speech difficulties due to velopharyngeal anomalies, learning disability (mild), CHD (especially VSD), and characteristic facies: large nose with broad nasal bridge, vertically long face, narrow palpebral fissures, and retruded mandible. Preoperatively assess cardiac function if indicated. Airway and intubation may be difficult. May present for pharyngoplasty. Obstructive sleep apnea may occur after pharyngoplasty and may cause death. Postoperative monitoring for apnea is recommended.
    von Gierke disease Type I (glycogen storage disease) Mental retardation, hepatomegaly, renal hyperplasia, stomatitis, lactic acidosis, leucopenia, and bleeding diathesis. Fasting causes hypoglycemia and convulsions. Severe biochemical disturbances; unresponsive to epinephrine and glucagon. May also have Fanconi syndrome (see Fanconi syndrome).

    • Continuous IV glucose infusion preoperatively and perioperatively. Monitor blood sugar and acid-base balance. Caution with propofol —report of postoperatively pancreatitis in a patient with this disease.

    • Type III (Cori disease; Forbes disease) Similar to but milder than type I.

    • Type VI (Hers disease) Similar to but milder than type I.

    Shenkman Z, Golub Y, Meretyk S et al: Anaesthetic management of a patient with glycogen storage disease type 1b. Can J Anaesth 43:467–470, 1996.
    Bustamante SE, Appachi E: Acute pancreatitis after anesthesia with propofol in a child with glycogen storage disease type IA. Paediatr Anaesth 16:680–683, 2006.
    von Hippel-Lindau syndrome Retinal angiomas and cerebellar hemangioblastomas; pheochromocytoma in some; may have pulmonary, pancreatic, hepatic, adrenal, renal cysts. Paroxysmal hypertension due to cerebellar tumor or pheochromocytoma. Preoperatively assess renal and hepatic function and investigate for pheochromocytoma (urinary vanillylmandelic acid). Hypertensive crises may occur.
    Gurunathan U, Korula G: Unsuspected pheochromocytoma: von Hippel-Lindau disease. J Neurosurg Anesthesiol 16:26–28, 2004.
    von Recklinghausen disease (neurofibromatosis) Café au lait spots (>5): tumors in all parts of the CNS and peripheral tumors associated with nerve trunks. Tumors may occur in the larynx or trachea and right ventricular outflow tract); Kyphoscoliosis in 50%; neck may be unstable. May have fibrosing alveolitis “honey comb (cystic) lung” predisposing to pulmonary problems. Renal artery dysplasia (hypertension) common. Pheochromocytoma in 1% (All these patients should be investigated—urinary vanillylmandelic acid). Check pulmonary, renal, and cardiac function as indicated. Intubation could be complicated by tumor. Caution with neck. Test response to neuromuscular drugs: effects of depolarizing and nondepolarizing muscle relaxants may be prolonged. If kidneys are involved, care with drugs excreted by kidneys.
    Delgado JM, de la Matta Martin M: Anaesthetic implications of von Recklinghausen’s neurofibromatosis. Paediatr Anaesth 12:374, 2002.
    von Willebrand disease (pseudohemophilia) Prolonged bleeding time (decreased von Willebrand factor and associated decreased factor VIII activity leading to defective platelet adhesiveness) and capillary abnormality. History of bruising and bleeding (menorrhagia, epistaxis, etc.). Several types of the disease exist and determine the response to therapy. IV desmopressin acetate (DDAVP) is effective therapy for type 1 and some type 2 patients, but may exacerbate others. (Consult your hemato’ logist.) Type 2 and type 3 patients require factor VIII concentrates. Bleeding may be controlled by transfusions of fresh blood or fresh-frozen plasma and/or cryoprecipitate. Antifibrinolytics may help. Do not use salicylates (effect on platelets, possible gastrointestinal bleeding). Monitor factor VIII and bleeding time, maintain factor VIII at > 50% activity.
    Lee JW: Von Willebrand disease, hemophilia A and B, and other factor deficiencies. Int Anesth Clin 42:59–76, 2004.
    Weaver syndrome Skeletal overgrowth leading to craniofacial and digital abnormalities. Relative micrognathia, short neck, and anterior larynx lead to difficult intubation. Caution with airway and intubation. Difficulties may be less in older children.
    Crawford MW, Rohan D: The upper airway in Weaver syndrome. Paediatr Anaesth 15:893–6, 2005.
    Weber-Christian disease (chronic nonsuppurative panniculitis)

    • Necrosis of fat in any situation, including the following:

    • Retroperitoneal tissue: may cause acute or chronic adrenal insufficiency.

    • Pericardium: leads to restrictive pericarditis.

    • Meninges: causes convulsions.

    Preoperatively assess cardiac and renal function. Prevent trauma to fat by heat, cold, or pressure. Maintain blood volume; use cardiac depressant drugs and drugs excreted by the kidneys with caution.
    Spivak JL, Lindo S, Coleman M: Weber-Christian disease complicated by consumption coagulopathy and microangiopathic hemolytic anemia. Johns Hopkins Med J 126:344, 1970.
    Welander distal myopathy (late distal hereditary myopathy) Initially involves distal muscles. Onset after third decade of life. Prognosis for life good, for ambulation poor. See also Werdnig-Hoffman disease. May require spinal fusion. Use extreme care with propofol, thiopental, and muscle relaxants; use respiratory depressant drugs with caution.
    Werdnig-Hoffman disease (infantile muscular atrophy) Onset in infancy; more severe than Welander muscular atrophy. Feeding difficulties; aspiration of stomach contents. Chronic respiratory problems. Most patients die before puberty. Minimal anesthesia required. Succinylcholine is contraindicated (due to hyperkalemia). Use muscle relaxants or respiratory depressant drugs with caution. Ventilatory support may be required, and weaning may be difficult.
    Wermer syndrome (multiple endocrine adenomatosis (MEN1) type 1)

    • Hyperparathyroidism, tumors of pituitary and pancreatic islet cells (hypoglycemia), gastric ulcer. Carcinoid tumors of bronchial tree are common. Renal failure due to stones.

    • Preoperatively assess for renal and pituitary dysfunction: presence of carcinoid tumor. Preoperative consult with endocrinologist for specific management issues. Administer glucose at maintenance rates and monitor perioperative glucose values.

    Control blood glucose carefully. See also carcinoid tumors ( p. 551 ).
    Capell BC, Collins FS, Nabel EG: Mechanisms of cardiovascular disease in accelerated aging syndromes. Circ Res 101:13–26, 2007.
    Werner syndrome Premature aging; diabetes in 50%, mental retardation in 50%, early cataracts, osteomyelitis-like bone lesions, cardiac infarction and failure. Preoperatively assess for evidence of myocardial ischemia and dysfunction, and diabetes.
    Valkenburg AJ, de Leeuw TG, Machotta A et al: Extremely low preanesthetic BIS values in two children with West syndrome and lissencephaly. Pediatr Anaesth 18:446–448, 2008.
    West syndrome Infantile spasms, hypsarrhythmia on EEG, and psychomotor impairment. Seizures, neurologic deficits, lissencephaly, and severe mental deficiency. Long-term treatment with anticonvulsants required. Very low BIS values noted in “awake” patient with paradoxical changes during anesthesia induction. BIS monitor may be unreliable to monitor anesthesia depth. Parents may be helpful in determining when their child is “awake.”
    Williams syndrome (elfin facies syndrome) Cardiac anomalies: usually supravalvular aortic stenosis, peripheral pulmonary artery obstruction, and mental retardation (IQ 40–80), elfin facies. Fixed cardiac output and myocardial ischemia leading to dyspnea and angina. Very high anesthetic risk and difficult to resuscitate. Sudden death may occur. Hypercalcemia, require low calcium diet, steroids, and cardiac corrective surgery. Hypothyroidism and renal abnormalities may be present. Preoperatively assess cardiac and renal function, and calcium. Check steroid history. Monitor calcium levels perioperatively. Mask ventilation and intubation may be difficult. High incidence of cardiac arrest during induction of anesthesia. A careful smooth slow inhalation induction with modest doses of inhalation agent may be used, but an intravenous induction with an opioid based anesthetic is recommended. Avoid cardiac depressants and drugs causing tachycardia. Transesophageal echocardiography may aid anesthetic management. Also check website:
    Medley J, Russo P, Tobias JD: Perioperative care of the patient with Williams syndrome. Pediatr Anaesth 15:243–247, 2005.
    Wilson disease (hepatolenticular degeneration) Decreased ceruloplasmin; copper deposits, especially in liver and CNS motor nuclei. Renal tubular acidosis; hepatic failure due to fibrosis. Muscle relaxants: succinylcholine prolonged apnea rare despite pseudocholinesterase reduction. Nondepolarizing relaxants unpredictable due to globulin binding; titrate drugs and monitor block. Vecuronium predominantly hepatic degraded, caution use. Sevoflurane for induction; isoflurane and desflurane slightly preferred for maintenance. Care with drugs excreted by kidneys.
    Green DW, Ashley EM: The choice of inhalation anaesthetic for major abdominal surgery in children with liver disease. Paediatr Anaesth 12:665–673, 2002.
    Wilson-Mikity syndrome Prematurity (<1500 g birth weight); severe chronic lung disease leading to generalized fibrosis with cystic areas, repeated chest infection, aspiration, right ventricular failure. Steroids may be given to try to prevent pulmonary fibrosis. Pathogenesis unknown; possibly due to O 2 toxicity or barotrauma. Check respiratory and cardiac status preoperatively. May have a history of steroid therapy. Monitor carefully postoperatively for apnea.
    Stasic AF: Perioperative implications of common respiratory problems. Sem Pediatr Surg 13:174–180, 2004.
    Wiskott-Aldrich syndrome Decreased production of platelets; hypersusceptibility to severe herpes simplex infections (disordered immune mechanism), eczema, asthma. May have RES malignancies. Most die before 10 yr of age, many from generalized herpes or opportunistic infection. Antibiotic prophylaxis may be indicated preoperatively. Transfusions of blood and platelets may be required; bone marrow transplantation has been used. All blood products must be irradiated to prevent graft-versus-host reaction. Use sterile technique (reverse isolation).
    Notarangelo LD, Miao CH, Ochs HD: Wiskott-Aldrich syndrome. Curr Opin Hemat 15:30–36, 2008.
    Wolf-Parkinson-White (WPW) syndrome Anomalous conduction path between atria and ventricles. ECG: Short P-R interval; prolonged QRS with phasic variation in 40%. Prone to paroxysmal supraventricular tachycardia (SVT). May have other cardiac defects. Infants, especially preterm, are very prone to SVT. May be associated with CHD. Prone to arrhythmias. Paroxysmal SVT on induction of anesthesia has been reported; treat with countershock. Preoperatively review cardiac status with cardiologist. Avoid atropine, halothane, or pancuronium. Thiopental, isoflurane, and vecuronium are suitable agents; also rocuronium, sevoflurane, and opioids. Avoid use of neostigmine. During electrophysiologic studies, propofol may be anesthetic of choice having little effect on abnormal conduction pathways.
    Perez ER, Bartolome FB, Carretero PS et al: Electrophysiological effects of sevoflurane in comparison with propofol in children with Wolff-Parkinson-White syndrome. [Spanish] Revista Espanola de Anestesiologia y Reanimacion. 55(1):26–31, 2008.
    Wolman disease (familial xanthomatosis) Failure to thrive because of xanthomatous visceral changes: adrenal calcification. Resembles Niemann- Pick disease, with hepatosplenomegaly, hypersplenism, and foam cell infiltration (of all tissues, including myocardium.) Death usually by 6 mo of age. Treatment entirely supportive.
    Zellweger syndrome See cerebrohepatorenal syndrome.

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