Arzimanoglou A
Service de pédiatrie, hôpital de la Salpêtrière, Paris.
Rev Prat. 1991 Sep 15;41(20):1940-4.
The Rett syndrome is characterized by a progressive development of loss of intellectual functions and of motricity, including abnormal stereotypic hand movements and reduction of the motor skill. This syndrome is exclusively observed in girls. Its typical evolution is characterized by a normal initial development (until 6 to 18 months after birth) followed by a progressive installation of the clinical signs in 4 steps. There is currently no biological marker for the Rett syndrome and therefore the diagnosis is only based on clinical criteria. The most common erroneous diagnosis is infantile autism. In this review, the current status of clinical, genetic and pathogenetic knowledge of the Rett syndrome is presented.
瑞特综合征的特征是智力功能和运动能力逐渐丧失，包括异常的刻板手部动作和运动技能减退。这种综合征仅在女孩中出现。其典型病程特点是最初发育正常（直至出生后6至18个月），随后临床症状分4个阶段逐渐显现。目前尚无瑞特综合征的生物学标志物，因此诊断仅基于临床标准。最常见的误诊是婴儿自闭症。在本综述中，介绍了瑞特综合征临床、遗传和发病机制方面的现有知识状况。
