鱼鳞病-肝脾肿大-小脑退化综合征

定义 英文原文（暂无中文）

A rare genetic neurologic syndrome characterized by the triad of ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia that presents with progressive dysarthria, unsteadiness of gait. Ichthyosis usually manifests with marked hyperkeratosis, affecting the hands, arms and legs, primarily on the extensor surfaces of the limbs. The severity of ataxia and disability of limb movements are variable. Upward vertical gaze palsy, sluggish reflexes and impaired memory may also be present. There have been no further descriptions in the literature since 1979.

别名

Dykes-Marks-Harper综合征

基本事实

遗传方式

常染色体隐性、X 连锁隐性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 8

外部标识与链接