Brainstem disconnection syndrome

定义 英文原文（暂无中文）

A rare syndrome with a brainstem malformation as a major feature characterized by the complete absence, or the complete or functional disconnection of the brainstem segments (midbrain, pons and medulla). Patients present with hypotonia, absence of eye contact, signs of impaired thermoregulation, paralysis of some cranial nerves and variable brain anomalies, mostly global cerebellar hypoplasia. Some patients manifest extracerebral anomalies like facial dysmorphism and heart defects. The prognosis is very poor and in case of survival, the patients suffer from severe disability.

基本事实

遗传方式

未知

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

外部标识与链接