Year: 2024
Type: article
Study design: Case Report
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.
Institution: Smt. N.H.L. Municipal Medical College
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4402494351