《英文msh詞典》Neuronopathic Gaucher Disease
[同義詞] Neuronopathic Gaucher Disease
[主題詞] Gaucher Disease
[中文釋義] 神經(jīng)原戈謝病
[英文釋義] 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)