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[拉福拉病的最新数据。关于17例病例]

[Recent data on Lafora disease. Apropos of 17 cases].

作者信息

Mouren M C, Roger J

出版信息

Arch Fr Pediatr. 1979 Mar;36(3):268-77.

PMID:114144
Abstract

This study reviews 99 anatomically verified case of Lafora body disease (82 from the literature and 17 personal cases). The clinical symptoms of the disease are characterised by the triad; epilepsy, myoclonus and dementia. An anatomical and histochemical study has been undertaken and as a result emphasis is given to recent hypotheses that suggest there are similarities with Type IV glycogen storage disease (Andersen's disease) which, although clinically distinct, has the same enzyme defect.

摘要

本研究回顾了99例经解剖学证实的拉福拉体病病例(82例来自文献,17例为个人病例)。该疾病的临床症状以三联征为特征,即癫痫、肌阵挛和痴呆。已开展解剖学和组织化学研究,结果强调了最近的假说,即该病与IV型糖原贮积病(安德森病)存在相似之处,尽管两者临床症状不同,但酶缺陷相同。

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