Kearns-Sayre Syndrome
48. Kearns-Sayre Syndrome Definition Kearns-Sayre syndrome is a very rare mitochondrial DNA disorder in which there is marked heterogenicity along with various inheritance patterns. It is distinguished by three features:…
48. Kearns-Sayre Syndrome Definition Kearns-Sayre syndrome is a very rare mitochondrial DNA disorder in which there is marked heterogenicity along with various inheritance patterns. It is distinguished by three features:…
78. Shy-Drager Syndrome Definition Shy-Drager syndrome (SDS) is a sporadic, rare, progressive neurodegenerative disease characterized by features of parkinsonism, autonomic failure, and cerebellar or pyramidal dysfunction. Shy-Drager syndrome is also…
45. Hydatidiform Mole Definition Hydatidiform mole encompasses several conditions, including complete and partial moles, placental site trophoblastic tumors, choriocarcinomas, and invasive moles. Complete moles are devoid of any fetal tissue…
75. Recurrent Respiratory Papillomatosis Definition Recurrent respiratory papillomatosis (RRP) is a manifestation of infection by the human papilloma virus (HPV) anywhere within the entire respiratory tract/system, from the nose into…
73. Pulmonary Hemosiderosis Definition Pulmonary hemosiderosis is repeated or chronic episodes of intra-alveolar bleeding resulting in iron accumulation (hemosiderin) in alveolar macrophages, culminating in pulmonary fibrosis and severe anemia. It…
72. Pulmonary Arteriovenous Fistula Definition Pulmonary arteriovenous fistula (PAVF) is an abnormal communication between the pulmonary arteries and vein. It is typically a congenital anomaly, but may also develop as…
71. Pulmonary Alveolar Proteinosis Definition Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by filling of the distal alveoli with endogenous proteinaceous or floccular material derived from surfactant…
41. Guillain-Barré Syndrome Definition Guillain-Barré syndrome is an acute, ascending motor neuron paralysis that progresses very rapidly. This disease is also called acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute idiopathic polyneuritis,…
66. Osteomalacia Definition Osteomalacia is a bone disease producing increasingly soft, brittle, flexible, and deformed bones because of a loss or shortage of calcium salts, or inadequate or delayed mineralization…
63. Neuroleptic Malignant Syndrome Definition Neuroleptic malignant syndrome (NMS) is a potentially fatal, iatrogenic syndrome characterized by hyperpyrexia, catatonic rigidity, mentation alteration, and profuse sweating. Rhabdomyolysis, renal failure, seizures, and…