Peters A C
Tijdschr Kindergeneeskd. 1985 Dec;53(6):232-4.
A 12-year-old girl with Rett's syndrome is presented. This syndrome, exclusively reported in girls, is characterized by a normal psychomotor development up to the age of 6 to 18 months, followed by developmental stagnation and then rapid progressive dementia, loss of purposeful use of the hands replaced by stereotypic hand movements, truncal ataxia, spasticity, seizures and microcephaly. The syndrome is not rare; prevalence has been reported as 0.65/10 000 girls.
本文报告了一名患有雷特综合征的12岁女孩。该综合征仅在女孩中报道，其特征为在6至18个月前精神运动发育正常，随后发育停滞，进而迅速发展为进行性痴呆，手部目的性使用丧失，代之以刻板的手部动作，躯干共济失调、痉挛、癫痫发作和小头畸形。该综合征并不罕见；据报道，患病率为每10000名女孩中有0.65例。
