Lafora disease: A rare case report

Lafora disease is an autosomal recessive disorder characterized by seizures, myoclonus, and progressive intellectual deterioration leading to dementia. The gene locus has been mapped to chromosome 6q23-27. Diagnosis often involves demonstrating Lafora bodies, typically confirmed through axillary ski...

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Bibliographic Details
Published inIndian journal of pathology and oncology Vol. 11; no. 3; pp. 303 - 306
Main Authors Mistry, Krishna, Bamaniya, Gayatri Himsinh, Goyal, Anajali Dipak
Format Journal Article
LanguageEnglish
Published 28.09.2024
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Summary:Lafora disease is an autosomal recessive disorder characterized by seizures, myoclonus, and progressive intellectual deterioration leading to dementia. The gene locus has been mapped to chromosome 6q23-27. Diagnosis often involves demonstrating Lafora bodies, typically confirmed through axillary skin biopsy showing PAS positive inclusion in the cells of the sweat ducts. It typically begins in adolescence and worsens over time, leading to significant disability and early death. It’s indeed a challenging diagnosis, especially given its rarity and complex presentation. We present a case of Lafora disease diagnosed in a 15-year-old man.
ISSN:2394-6784
2394-6792
DOI:10.18231/j.ijpo.2024.065