Al-Mateen M, Philippart M, Shields W D
Am J Dis Child. 1986 Aug;140(8):761-5. doi: 10.1001/archpedi.1986.02140220043029.
We report 15 cases of Rett syndrome, a slowly progressive disorder that occurs only in girls and is characterized by early deterioration of higher brain function with dementia and autistic behavior, loss of purposeful use of the hands, and deceleration of head growth. Epilepsy, with minor motor seizures being the predominant type, has its onset between 2 and 4 years of age in the majority of cases. Additional features include an extrapyramidal disorder with dystonia and choreoathetosis, and lactic acidemia. A precise biochemical marker of this disorder has not been identified.
我们报告了15例雷特综合征病例，这是一种仅发生于女童的缓慢进展性疾病，其特征为高级脑功能早期退化并伴有痴呆和自闭症行为、手部目的性使用丧失以及头围生长减速。癫痫在大多数病例中于2至4岁发病，以轻微运动性发作最为常见。其他特征包括伴有肌张力障碍和舞蹈手足徐动症的锥体外系疾病以及乳酸性血症。该疾病的确切生化标志物尚未确定。
