X连锁脑积水

X-linked hydrocephalus.

作者信息

Kuzniecky R I, Watters G V, Watters L, Meagher-Villemure K

出版信息

Can J Neurol Sci. 1986 Nov;13(4):344-6. doi: 10.1017/s0317167100036726.

Abstract

Two French-Canadian families with seven cases of hydrocephalus in two generations are presented. The pattern of inheritance is consistent with an X-linked recessive transmission. The clinical and pathologic characteristics of this entity are reviewed. The anomaly of adducted thumbs was present in one patient and its cause is considered. The hypothesis of primary hydrocephalus and secondary compression of the aqueduct as the mechanism for aqueductal stenosis is discussed.

摘要

本文介绍了两个法裔加拿大家庭，两代人中出现了7例脑积水病例。遗传模式符合X连锁隐性遗传。本文回顾了该疾病的临床和病理特征。一名患者出现了内收拇指异常，并对其病因进行了探讨。讨论了原发性脑积水和导水管继发性受压作为导水管狭窄机制的假说。