Abstract :
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.
Keyword :
Periodic acid - Schiff positive inclusions, Progressive myoclonic epilepsy, Sweat glands.