一名2歲11個月女孩,因精神運動發育逐漸遲緩,語言障礙,而來就診,臨床上可見到小頭,煩躁不安,表情呆滯,有重覆固定的動作,以及奇異的行為表現,被診斷為Rett氏症候羣,經10個月的追蹤,並作一系列的檢查。此例是榮總所發現的第2例,因此症候羣較罕見,特提出報告。
In 1966, Andreas Rett first described a syndrome that was observed only in girls and characterized by autistic behavior, mentral retardation, gait apraxia, expressionless face, stereotyped movement patterns in arms and hands, alalia and progression of the disease. This syndrome has been known as ”Rett syndrome” in European countries; it is only recently that it has aroused interest in other areas of the world. This report concerns a two-year-old girl with Rett syndrome. She was referred to Veterans General Hospital because of psychomotor retardation and speech disorder. Clinical observation showed acquired microcephaly, anxiety, autistic tendency, expressionless face, stereotyped movement of hands, protrusion of tongue, grinding teeth and apraxtic gait. During the 10 months follow-up period, frequent generalized clonic seizures and episodes of hyperventilation were noted. Biochemical examinations including serum amino acid analysis, urine organic acid screening test, determination of the levels of serum ammonia and lactic acid, 24-hrs urinary 3-methoxy-4-hydroxy-vanillyl mandelic acid (VMA) were normal. CT scan of the brain and auditory brain stem evoked potential were normal, hut the EEG with polygraphic recording showed abnormal electrographic seizure patterns with clinical generalized clonic seizure simultaneously and increment of REM sleep stage. The pathophysiology of this syndrome still remains unknown. Further biochemical and histochemical examination of the brain are necessary.