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

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

Arq Neuropsiquiatr

Serviço de Neurologia Clínica, Hospital Santa Marcelina, Brasil.

Published: December 2000

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.

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Source
http://dx.doi.org/10.1590/s0004-282x2000000600022DOI Listing

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