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What is the basic defect? Are there any significant comorbidities?
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How do they affect your anesthetic plan?
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What is the significance of the protuberant abdomen and enlarged liver and spleen?
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How does this disease affect the cardiovascular system?
- (e)
Do you think this patient has restrictive or obstructive lung disease? Should PFT’s or arterial blood gases be obtained preoperatively?
Why are infants tested for phenylketonuria? What are the consequences of a deficiency of phenylalanine hydroxylase? Can this be managed adequately by reduction of phenylalanine? Let’s say that you had to do a gastrostomy in a patient with PKU who was 5 years old with an IQ of 20. Any special anesthetic considerations?
An 8-year-old with a history of familial hypercholesterolemia type II B is scheduled for a portacaval shunt as a last-ditch treatment effort to lower his cholesterol; he is treated with cholestyramine and clofibrate. Dietary treatment has been of no benefit. His preoperative ECG shows Q waves in leads II, III, and avF and leads V4–V6. What are your thoughts about management? Do you think he is homozygous or heterozygous for this disorder? What difference does it make? What if his brother was heterozygous?
A community pediatric dentist calls to ask your advice about a 4-year-old who has been scheduled for office-based dental rehab with sedation. The patient has OTC syndrome (ornithine transcarbamylase deficiency, a disorder of the urea cycle). He typically uses a 50 % fixed mixture of nitrous oxide and oxygen (Entonox) and occasionally gives some PO midazolam for “difficult” children. What are your thoughts?
An 8-year-old is scheduled for muscle biopsy, brainstem auditory evoked potentials, echocardiogram, and eye exam under anesthesia. He has mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. What would you like to know about him BEFORE he comes to the operating room for his anesthetic and diagnostic tests? What problems do you anticipate? How will you “design” your anesthetic technique?
Additional Questions
Answers
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Lysosomal Storage Disease: Hurler Syndrome
- (a)
Mucopolysaccharidosis IH, called Hurler’s disease, is one of a group of inherited disorders resulting from defects in degradation of complex mucopolysaccharides (now called glycosaminoglycans). Affected patients lack the lysosomal hydrolases responsible for degradation of these compounds. The lysosomes become engorged with mucopolysaccharides. The compounds dermatan and heparan, formed in excess as a result of defects in degradation of the glycosaminoglycans (formerly known as mucopolysaccharides), accumulate in virtually all tissues of the body.
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Because you have to assume that glycosaminoglycans infiltrate all tissues, morbidity will be related to immobility. This especially includes the airway but also affects cardiac contractility and electrical conduction, the neck, and all joints including the cervical spine. The enlarged chest with limited rib excursion makes performing tracheostomy, especially in an emergency, very difficult. The liver and spleen are enlarged as a result of these accumulated glycosaminoglycans as well, similar to the tongue and other connective tissues [3].
- (c)
The liver and spleen are enlarged as a result of accumulation of incompletely degraded mucopolysaccharides, similar to the tongue and other connective tissues. Physical as well as physiological impairments may result.Related posts:
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- (a)
