When can a skin biopsy reveal Lafora disease
DOI:
https://doi.org/10.18203/2394-6040.ijcmph20253282Keywords:
Progressive myoclonic epilepsy, Axillary skin biopsy, Lafora bodies, Periodic acid-SchiffAbstract
Lafora disease (LD) is a rare and particularly severe form of progressive myoclonic epilepsy (PME). It is an autosomal recessive hereditary disorder, with the responsible gene recently localized to chromosome 6q23-27. It is characterized by the onset, between the ages of 6 and 19, of generalized seizures followed by myoclonus. A major intellectual decline develops rapidly and progressively, eventually leading to dementia. Histological examination is essential for confirming the diagnosis of LD. The most practical procedure is a skin biopsy performed in the axillary region, allowing visualization of PAS positive inclusions within the excretory duct cells of the sweat glands-findings that are consistent with Lafora bodies. We report a clinical case of LD in a 16 years old adolescent girl and discuss the diagnostic challenges associated with this condition.
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