Choong C T, Lyen K R
Department of Paediatrics, Alexandra Hospital, Singapore.
J Singapore Paediatr Soc. 1990;32(3-4):169-76.
Five girls, aged 2.5 years to 10 years, with Rett Syndrome are presented. The girls (four Chinese and one Indian) demonstrate the classic features of developmental regression with dementia, loss of hand function and stereotyped hand movements. There are as yet no pathognomonic laboratory markers and diagnosis can be difficult especially in the early stages before evolution of the full clinical spectrum. Adherence to current diagnostic criteria is essential. Rett Syndrome is probably not an uncommon cause of severe progressive neurological disability in girls.
本文报告了5名年龄在2.5岁至10岁之间的患有雷特综合征的女孩。这些女孩（4名中国人和1名印度人）表现出发育倒退、痴呆、手部功能丧失和刻板手部动作等典型特征。目前尚无特异性的实验室标志物，诊断可能较为困难，尤其是在全面临床症状出现之前的早期阶段。严格遵循当前的诊断标准至关重要。雷特综合征可能是女孩严重进行性神经残疾的常见病因之一。
