| 单词 | Neuronopathic Gaucher Disease |
| 释义 | Neuronopathic Gaucher Disease《英文msh词典》Neuronopathic Gaucher Disease [同义词] Neuronopathic Gaucher Disease [主题词] Gaucher Disease [中文释义] 神经原戈谢病 [英文释义] An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form,a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia,loss of cognitive gains,neck retraction,dysphagia,and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect,hepatosplenomegaly,ATAXIA,myoclonic SEIZURES,and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia,and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10(4):711-23; Menkes,Textbook of Child Neurology,5th ed,p97) |
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