先天性双侧外侧裂周综合征：首例日本患者报告。

Congenital bilateral perisylvian syndrome: first report in a Japanese patient.

作者信息

Hattori H, Higuchi Y, Maihara T, Jung E Y, Furusho K, Asato R

机构信息

Department of Pediatrics, Faculty of Medicine, Kyoto University, Japan.

出版信息

Jpn J Hum Genet. 1996 Mar;41(1):189-92. doi: 10.1007/BF01892626.

DOI:10.1007/BF01892626

PMID:8914634

Abstract

A Japanese boy with congenital bilateral perisylvian syndrome is described. He had oropharyngoglossal dysfunction and severe dysarthria. Magnetic resonance imaging of the brain disclosed bilateral perisylvian malformations suggesting polymicrogyria. The patient also showed mental retardation, epilepsy, and poor motor skills.

摘要

本文描述了一名患有先天性双侧外侧裂周综合征的日本男孩。他存在口咽舌功能障碍和严重构音障碍。脑部磁共振成像显示双侧外侧裂周畸形，提示多小脑回。该患者还表现出智力发育迟缓、癫痫和运动技能差。