Lafora disease in a teenage girl with epilepsy

Lafora disease is rare group of progressive myoclonic epilepsies, worldwide. It is more common in children and adolescents and is
genetic, glycogen metabolism disorder. It has Autosomal recessive (AR) inheritance. Lafora bodies are inclusion bodies within
cytoplasm of cells in heart, liver, muscle, and skin. Disease clinically has triad of seizures, myoclonus, and dementia. Lafora disease
is a neurodegenerative disorder. In the absence of laforin function long glucose chains in specific glycogen molecules extrude water form double helices and drive precipitation of molecules which accumulate into Lafora bodies. That leads to impairment in
development of cerebral cortical neurons. Clinical on set of disease is range in between 8-19 years of age and peaks around 15
years of age. In our case, 16-year-old girl presented to emergency of tertiary care hospital with complain of episode of convulsions
40 minutes before admission. She is known case of generalized tonic-clonic seizures for past two years. Axillary skin biopsy on
H&E staining showed pilosebaceous glandular unit with peri-adnexal and perivascular infiltrate. PAS-D stain showed round,
globular, tiny PAS positive material noted within sweat glands. MRI brain was suggestive of right vertebral artery partial occlusion