Galli V, Ciccarone V, Venuta A, Ferrari P, Cavazzuti G B
Pediatr Med Chir. 1985 Jan-Feb;7(1):23-7.
In this paper we report the cases of two girls affected by a progressive encephalopathy. Both stories are similar. After a normal development in the first year of life, neurological regression occurred since the beginning of the second year. This progressive syndrome led within a few months to a loss of any verbal acquisition, loss of purposeful use of the hands, dementia, autism. Other neurological alterations occurred in the following years: piramidal signs at lower limbs, generalized and partial seizures, ataxia, gait apraxia. All laboratory findings were normal in both girls. The EEG was abnormal in both patients and the patterns were quite the same in following records of both girls. The disease occurred in our patients is quite certainly the same described by Rett for the first time in 1966.
在本文中，我们报告了两名患有进行性脑病的女孩的病例。两个病例情况相似。在生命的第一年正常发育后，从第二年开始出现神经功能衰退。这种进行性综合征在几个月内导致任何语言习得能力丧失、手部目的性使用能力丧失、痴呆、自闭症。在接下来的几年里出现了其他神经功能改变：下肢锥体束征、全身性和部分性癫痫发作、共济失调、步态失用症。两名女孩的所有实验室检查结果均正常。两名患者的脑电图均异常，且在随后的记录中两名女孩的脑电图模式相当相同。我们患者所患的疾病肯定与1966年雷特首次描述的疾病相同。
