Spiess Y, Boltshauser E, Hänggeli C A, Bubl R
Schweiz Med Wochenschr. 1986 Apr 12;116(15):458-63.
Rett syndrome, named after Rett's first description in 1966, evolves typically in 3 stages: after normal early psychomotor development up to the age of 6-24 months, stagnation and regression occur over a few months resulting in severe dementia, loss of speech, of social response and of purposeful hand use. This is accompanied by particular stereotyped hand movements and usually also by deceleration of head growth. The further course is often stable for a prolonged period, or only slowly progressive. Common features are seizures, episodic hyperpnea, scoliosis, spasticity and vasomotor disturbances of lower limbs. Rett syndrome has been observed only in girls, all cases (with 2 exceptions) being sporadic. This is probably explained by a X-linked dominant new mutation lethal in males. The pathogenesis is still unknown: no consistent metabolic, morphologic or neuroradiologic abnormalities have been found. According to some epidemiologic investigations, Rett syndrome affects about 1:15,000 girls and is thus responsible for a considerable proportion of severely retarded girls. Within one year the authors have retrospectively diagnosed 15 cases, which is assumed to represent only about a third of patients in Switzerland.
瑞特综合征以雷特于1966年首次描述该病而得名，其典型发展过程分为3个阶段：在6至24个月的正常早期精神运动发育之后，数月内出现停滞和倒退，导致严重痴呆、言语丧失、社交反应丧失及目的性手部活动丧失。这伴有特定的刻板手部动作，通常还伴有头部生长减速。后续病程通常在较长时间内稳定，或仅缓慢进展。常见特征包括癫痫发作、发作性呼吸急促、脊柱侧弯、痉挛及下肢血管舒缩障碍。仅在女孩中观察到瑞特综合征，所有病例（2例除外）均为散发性。这可能是由于X连锁显性新突变在男性中致死所致。其发病机制仍不清楚：尚未发现一致的代谢、形态学或神经放射学异常。根据一些流行病学调查，瑞特综合征影响约1/15000的女孩，因此在严重智力发育迟缓女孩中占相当比例。作者在一年内回顾性诊断了15例病例，据推测这仅占瑞士患者的约三分之一。
