Hagberg B A
Department of Pediatrics II, Children's Clinics, East Hospital, Göteborg, Sweden.
Pediatr Neurol. 1989 Mar-Apr;5(2):75-83. doi: 10.1016/0887-8994(89)90031-3.
The presentation and diagnosis of Rett syndrome at various ages and stages are reviewed. In addition to the "classic" form of this disorder, variability of phenotype exemplified by atypical patients is also examined. Characteristic peculiar manifestations of the condition are compiled from the author's personal experiences over a 28 year period. Speculations and ideas are presented on possible alternative causative mechanisms in an attempt to explain the origin of this disorder.
本文回顾了雷特综合征在不同年龄和阶段的临床表现及诊断。除了这种疾病的“经典”形式外,还研究了以非典型患者为例的表型变异性。本文根据作者28年的个人经验汇编了该病的特征性特殊表现。文中还提出了一些推测和想法,探讨可能的其他致病机制,以试图解释这种疾病的起源。