雷特综合征

Rett syndrome.

作者信息

Percy A K

机构信息

Department of Pediatrics, University of Alabama at Birmingham, USA.

出版信息

Curr Opin Neurol. 1995 Apr;8(2):156-60. doi: 10.1097/00019052-199504000-00013.

DOI:10.1097/00019052-199504000-00013

PMID:7620591

Abstract

Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations regarding abnormal brain cytoarchitecture.

摘要

瑞特综合征是一种在女性中发现的独特且令人困惑的疾病，可能是由婴儿早期关键脑连接的根本性故障引起的。最近的报告扩展了我们对瑞特综合征表型的理解，延续了代谢和遗传结果不一致或无定论的模式，并扩展了关于异常脑细胞结构的观察结果。