结节性硬化症与唐氏综合征：一种偶然关联？

Tuberous sclerosis and Down syndrome: a casual association?

作者信息

Elia M, Musumeci S A, Ferri R, Dalla Bernardina B, Colamaria V, Bergonzi P

机构信息

OASI Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy.

出版信息

Brain Dev. 1992 Jul;14(4):245-8. doi: 10.1016/s0387-7604(12)80238-5.

DOI:10.1016/s0387-7604(12)80238-5

PMID:1443404

Abstract

This paper reports on the clinical, neurophysiological and neuroradiological characteristics of a patient with Down syndrome unusually associated with tuberous sclerosis. In particular, epilepsy is investigated in detail and its polygraphic study and etiopathological factors are discussed. The most interesting findings are those related to the presence of a structural abnormality of the rolandic-parietal cortex, bilaterally, in the form of pachygyria.

摘要

本文报道了一名患有唐氏综合征且异常合并结节性硬化症患者的临床、神经生理学和神经放射学特征。尤其对癫痫进行了详细研究，并讨论了其多导记录研究及病因病理因素。最有趣的发现是双侧中央后回 - 顶叶皮质存在结构异常，表现为巨脑回。