González-De la Rosa MG, Alva-Moncayo E

Language: Spanish
References: 14
Page: 252-256
PDF size: 290.74 Kb.

ABSTRACT

Myoclonic epilepsy, described in 1911 by Lafora and Glueck, is an autosomal recessive hereditary clinicalpathological entity, which begins at the end of childhood or during adolescence, presents atypical absences, generalized and atonic tonic-clonic seizures, which can evolve to the epileptic state. The diagnosis is confirmed trough the skin biopsy or trough determination of the protein laforine. In this paper we present the initial case of a patient in whom we confirm the diagnosis of progressive myoclonic epilepsy and in particular the Lafora disease, which due to the symptomatology and the knowledge of the case we were able to detect her sister’s disease.
Skin biopsies are reported with high sensitivity and specificity, observing inclusion bodies, and neurophysiological and electroencephalographic studies are undoubtedly non-specific. The article reports on the cases of two sisters, who were definitively confirmed their diagnosis, which allowed us to focus on the early detection of the other case.

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