Campos-Castelló J, Peral Guerra M, Riviere Gómez A, Oliete García F, Herranz Tanarro J, Toledano Barrero M, Espinar Sierra J, Cristobal Sassot S, Lautre Ecenarro M J, Franco Carcedo C
Departamento de Pediatría, Hospital Universitario San Carlos, Madrid.
An Esp Pediatr. 1988 Apr;28(4):286-92.
A multicentric study of 15 cases of Rett syndrome selected with the diagnostic criteria according HAG-BERG et al: female sex, normal pre and perinatal period, normal psychomotor development through the first months of life, early dementia between 1-3 years of age with autistic behaviour, loss of acquired purposeful hand skill, "washing hands" stereotypies, normal head circumference at birth with later deceleration of head growth and truncal ataxia with gait apraxia. Waking EEG showed unspecific abnormalities while sleep recording demonstrated extremely frequent multifocal spike and sharp waves mainly over the rolandic region and generalized, and also pseudo-periodic suppression of background activity. In 3 cases the EMG showed a peripheral axonal neuropathy. Only in one case we found hyperammonemia. Karyotypic studies performed in 12 cases demonstrated non specific fragile sites. CT scan was normal in almost all cases. The QD was extremely low.
一项多中心研究，根据哈格 - 伯格等人的诊断标准选取了15例雷特综合征患者：女性，出生前和围生期正常，出生后头几个月精神运动发育正常，1至3岁时出现早期痴呆并伴有自闭症行为，丧失已习得的有目的手部技能，“洗手”刻板动作，出生时头围正常，随后头围增长减速以及躯干共济失调伴步态失用。清醒脑电图显示非特异性异常，而睡眠记录显示在罗兰区及全脑出现极其频繁的多灶性棘波和尖波，以及背景活动的假性周期性抑制。3例患者肌电图显示周围轴索性神经病。仅1例发现高氨血症。对12例患者进行的核型研究显示非特异性脆性位点。几乎所有病例的CT扫描均正常。智商极低。
