Fujino K, Hashimoto T
Department of Pediatrics, School of Medicine, University of Tokushima.
No To Hattatsu. 1990 Jan;22(1):16-23.
The biogenesis of the Rett syndrome (RS) is unknown although there have been several reports suggesting some biochemical defect of the monoaminergic system in CNS. We performed all night polysomnography and neuroendocrinological tests in three cases of RS discovered on a surveillance study in Tokushima. The following results were obtained; 1) dissociation of sleep elements (stage 1-REM, stage 2-REM), 2) no increase in REMs/min with development, 3) abnormal patterns of BMs, TMs of each sleep stage, 4) paradoxical secretion of growth hormone (GH) and excessive secretion of prolactin in TRH provocation test, the absence of sleep enhancement of GH secretion, 5) progressive disfunction of autonomic nervous system during sleep. These results indicated that RS involves the functional disturbances of brain stem and hypothalamic monoaminergic regulatory systems.
尽管有几份报告表明中枢神经系统单胺能系统存在一些生化缺陷，但雷特综合征（RS）的发病机制尚不清楚。我们对在德岛进行的一项监测研究中发现的3例RS患者进行了整夜多导睡眠图和神经内分泌测试。获得了以下结果：1）睡眠成分解离（1期-快速眼动期，2期-快速眼动期），2）随着发育，每分钟快速眼动次数无增加，3）各睡眠阶段的基本节律（BMs）、顶尖波（TMs）模式异常，4）促甲状腺激素释放激素（TRH）激发试验中生长激素（GH）的反常分泌和催乳素的过度分泌，GH分泌无睡眠增强现象，5）睡眠期间自主神经系统进行性功能障碍。这些结果表明，RS涉及脑干和下丘脑单胺能调节系统的功能紊乱。
