Abstract
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 survaylance 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 prolactine 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.
