痉挛性截瘫-性早熟综合征

定义 英文原文（暂无中文）

Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.

基本事实

遗传方式

常染色体显性

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 6

外部标识与链接