卡纳万病
别名(英)
ACY2 deficiency,Aminoacylase 2 deficiency,ASPA deficiency,Aspartoacylase deficiency,Canavan-van Bogaert-Bertrand disease,Spongy degeneration of central nervous system
别名
ACY2缺乏症、氨基酰化酶2缺乏症、ASPA缺乏症、天冬氨酸酰化酶缺乏症、Canavan-van Bogaert-Bertrand病、中枢神经系统海绵状变性
统计
reviewed:1; annotated:0
交叉引用
271900,C0206307,CN068568,CN203803,CN203804,D017825
描述(英)
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average.
描述
一种罕见的婴儿期或儿童期神经退行性疾病，其特征是白质空泡化和脱髓鞘，导致外观呈海绵状。临床特征为婴儿早期发病，颈部肌肉张力减退，肌张力减退，双腿过度伸展和手臂屈曲，失明，严重精神缺陷，巨头畸形，平均18个月后死亡。