12号染色体短臂三体与伴有肌阵挛失神的癫痫

Trisomy 12p and epilepsy with myoclonic absences.

作者信息

Elia M, Musumeci S A, Ferri R, Cammarata M

机构信息

Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), Italy.

出版信息

Brain Dev. 1998 Mar;20(2):127-30. doi: 10.1016/s0387-7604(98)00006-0.

DOI:10.1016/s0387-7604(98)00006-0

PMID:9545186

Abstract

We report the case of a 6-year-2-month-old female affected by trisomy 12p syndrome. Seizures were typical myoclonic absences from both the clinical and EEG points of view. Our patient and other sporadic reports in the literature seem to support the hypothesis that, at least in some cases, myoclonic absences can be a direct or indirect effect of a chromosomopathy.

摘要

我们报告了一例6岁2个月大的患有12号染色体短臂三体综合征的女性病例。从临床和脑电图角度来看，发作表现为典型的肌阵挛失神发作。我们的患者以及文献中的其他散发病例报告似乎支持这样一种假说，即至少在某些情况下，肌阵挛失神发作可能是染色体病的直接或间接影响。