Chew C T, Lyen K R
J Singapore Paediatr Soc. 1989;31(1-2):82-9.
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名中国女孩和1名印度女孩）表现出发育倒退的典型特征，伴有痴呆、手部功能丧失和刻板的手部动作。目前尚无特异性的实验室指标，诊断可能会很困难，尤其是在疾病发展至完整临床谱之前的早期阶段。遵循当前的诊断标准至关重要。雷特综合征可能是导致女孩严重进行性神经功能障碍的常见病因。
