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[拉福拉病:通过肌肉活检进行诊断(病例报告)]

[Lafora's disease: diagnosis by muscle biopsy (case report)].

作者信息

Carvalho A A, Palou V, Rocha M S, Brucki S M, Argentoni M

机构信息

Serviço de Neurologia Clínica, Hospital Santa Marcelina, Brasil.

出版信息

Arq Neuropsiquiatr. 2000 Dec;58(4):1118-22. doi: 10.1590/s0004-282x2000000600022.

Abstract

A 16-year-old female patient had myoclonic epilepsy caused by Lafora's disease. Muscle biopsy showed a prominent splitting pattern in muscle fibers with the nicotinamide adenine nucleotide dehydrogenase-tetrazolium reductase reaction, hematoxylin-eosin, and PAS stains. This morphologic appearance of the tissue permits diagnosis using the benign technique of muscle biopsy. The ultrastructural examination of muscle may be necessary to confirm the diagnosis of Lafora myoclonus epilepsy if light microscopical findings are equivocal.

摘要

一名16岁女性患者患有拉福拉病引起的肌阵挛性癫痫。肌肉活检显示,在烟酰胺腺嘌呤二核苷酸脱氢酶-四氮唑还原酶反应、苏木精-伊红染色和过碘酸雪夫染色中,肌纤维出现明显的分裂模式。这种组织的形态学表现可通过肌肉活检的良性技术进行诊断。如果光镜检查结果不明确,可能需要进行肌肉的超微结构检查以确诊拉福拉肌阵挛性癫痫。

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