局灶性多小脑回畸形、慢波睡眠期持续棘慢波放电与科恩综合征：一例报告

Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report.

作者信息

Coppola Giangennaro, Federico Rosario R, Epifanio Giuseppina, Tagliente Francesca, Bravaccio Carmela

机构信息

Department of Psychiatry, Clinic of Child Neuropsychiatry, Child Neuropsychiatry, Audiophoniatry and Dermatovenereology, Second University of Naples, Via Pansini 5, 80131 Naples, Italy.

出版信息

Brain Dev. 2003 Sep;25(6):446-9. doi: 10.1016/s0387-7604(03)00055-x.

DOI:10.1016/s0387-7604(03)00055-x

PMID:12907281

Abstract

Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. Here, we report an 18-year-old male with Cohen syndrome associated with focal polymicrogyria and continuous spike-and-wave discharges during slow-wave sleep.

摘要

科恩综合征是一种罕见的遗传性疾病，其特征包括躯干肥胖、肌张力减退、智力发育迟缓、特殊面容和眼部异常。其他诊断性临床特征包括手足狭窄、生长指标低、中性粒细胞减少和脉络膜视网膜营养不良。在此，我们报告一名18岁男性患有科恩综合征，伴有局灶性多小脑回畸形和慢波睡眠期持续性棘慢复合波放电。