Bauman M L, Kemper T L, Arin D M
Children's Neurology Service, Massachusetts General Hospital, Boston 02114, USA.
Neuropediatrics. 1995 Apr;26(2):105-8. doi: 10.1055/s-2007-979737.
Rett syndrome (RS) is a clinically defined disorder which appears to be unique to females and which is associated with apparent loss of cognitive and motor skills early in life. Using the technique of gapless serial section, microscopic analysis of the brains from three cases of RS and identically processed age-matched controls was conducted to determine the nature and extent of cerebral abnormality in this disorder. Small neuronal cell size and increased cell packing density were observed throughout the brain in all three cases, without evidence of gliosis or active degeneration. These findings are consistent with a curtailment of brain development which may begin before birth. Further, the brain abnormalities in RS appear to be more diffuse than previously appreciated and are in accord with the widespread neurological symptoms characteristic of this disorder.
雷特综合征（RS）是一种临床定义的疾病，似乎仅见于女性，且与生命早期明显的认知和运动技能丧失有关。采用无间隙连续切片技术，对3例雷特综合征患者及年龄匹配、处理方式相同的对照者的大脑进行了显微镜分析，以确定该疾病中大脑异常的性质和程度。在所有3例患者的整个大脑中均观察到神经元细胞体积小和细胞堆积密度增加，无胶质增生或活动性变性的证据。这些发现与可能在出生前就开始的大脑发育受限一致。此外，雷特综合征中的大脑异常似乎比之前认为的更为弥漫，与该疾病广泛的神经症状特征相符。
