Neuhauser-Eichner-Opitz综合征

定义 英文原文（暂无中文）

A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983.

别名

儿童复发性脑病

基本事实

遗传方式

常染色体显性

发病年龄

儿童期、婴儿期

患病率

<1 / 1 000 000

临床表型 14

外部标识与链接