Holm V A
J Dev Behav Pediatr. 1985 Feb;6(1):32-6.
Two girls are described who had normal physical and mental development during the first few months of life, documented on home movies in one. Gross motor development slowed during the second half of the first year followed by loss of acquired vocabulary and deterioration of fine motor skills. Linear growth and head growth decelerated. Stereotyped hand movements appeared around 2 to 3 years of age. Early appropriate social responses faded into a vacant stare. Neurological development was characterized by early hypotonia followed by ataxia and finally spasticity. One girl has been followed through adolescence. Additional symptoms in later childhood and adolescence included scoliosis, episodes of hyperpnea, vasomotor disturbances of the legs, and precocious puberty. The patients fit the criteria for a progressive neurological disorder called Rett's syndrome, which results in profound developmental disability and occurs only in girls. Etiology remains unknown.
本文描述了两名女童，她们在出生后的头几个月里身体和智力发育正常，其中一名女童的情况有家庭录像记录为证。在出生后的第二年下半年，大运动发育减缓，随后已习得的词汇量减少，精细运动技能退化。线性生长和头部生长减速。在2至3岁左右出现刻板的手部动作。早期适当的社交反应逐渐消失，取而代之的是茫然凝视。神经发育的特点是早期肌张力减退，随后出现共济失调，最终发展为痉挛。其中一名女童已被跟踪观察至青春期。儿童后期和青春期出现的其他症状包括脊柱侧弯、呼吸急促发作、腿部血管舒缩障碍和性早熟。这些患者符合一种名为雷特综合征的进行性神经疾病的标准，该疾病会导致严重的发育障碍，且仅发生在女童中。病因仍然不明。
