[早期婴儿自闭症和过度自噬伴症状性巨结肠和肠梗阻1例]。

Padiatrie und Grenzgebiete Pub Date : 1993-01-01
P Fehlow, K Bernstein, A Tennstedt, F Walther
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引用次数: 0

摘要

报告1例埃勒-丹洛斯综合征,该综合征与智力迟钝和早期婴儿自闭症有关。病人在19岁时死于胃扩张,这是由于极端的空气吞噬导致的巨结肠和压迫,最终导致机械性肠梗阻。对小脑的调查显示,Purkinjè细胞以及第六、七小叶颗粒层细胞明显减少,这显然是由于基因决定的畸形所致。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Early infantile autism and excessive aerophagy with symptomatic megacolon and ileus in a case of Ehlers-Danlos syndrome].

A case of Ehlers-Danlos syndrome is reported, which was associated with mental retardation and early infantile autism. The patient died at the age of 19 by ectasy of the stomach as the result of extreme aerophagy causing a megacolon and by compression so finally resulting in a mechanical ileus. Investigation of the cerebellum revealed a significant rarefication and diminuation of the Purkinjè cells as well as the cells of the stratum granulare in the lobuli VI and VII, obviously due to a genetically determined malformation.

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