一例特纳镶嵌现象患者的双侧额叶多小脑回畸形与癫痫：病例报告

Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: a case report.

作者信息

Tombini M, Marciani M G, Romigi A, Izzi F, Sperli F, Bozzao A, Floris R, De Simone R, Placidi F

机构信息

Servizio di Neurofisiopatologia, Università di Roma Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.

出版信息

J Neurol Sci. 2003 Sep 15;213(1-2):83-6. doi: 10.1016/s0022-510x(03)00148-5.

DOI:10.1016/s0022-510x(03)00148-5

PMID:12873759

Abstract

Turner's syndrome (TS) is rarely associated with serious abnormalities of brain structure or malformations of cortical development. We report a 17-year-old girl with TS and 45,XO/46,XX mosaicism presenting bilateral frontal polymicrogyria (BFP) and epilepsy. To our knowledge, the association between TS and BFP has never been reported to date. Our observation confirms that in humans the X-chromosome plays an important role in the development and specialization of brain structure and function. We hypothesize that the absence or abnormalities of developmental genes localized on the X-chromosome could be involved in the pathogenesis of BFP observed in our patient.

摘要

特纳综合征（TS）很少与脑结构严重异常或皮质发育畸形相关。我们报告一名17岁患有TS且为45,XO/46,XX嵌合体的女孩，其患有双侧额叶多小脑回（BFP）和癫痫。据我们所知，TS与BFP之间的关联迄今为止从未有过报道。我们的观察证实，在人类中，X染色体在脑结构和功能的发育及特化过程中发挥着重要作用。我们推测，定位于X染色体上的发育基因的缺失或异常可能参与了我们患者中观察到的BFP的发病机制。