A CASE OF LAFORA BODY DISEASE

Lafora body disease is a rare autosomal recessive disease which is characterized bymyoclonus, seizures, progressive cognitive impairment and demonstration of Lafora bodies. It is also one of the differential diagnosis for progressive myoclonic epilepsy. Herein we are presenting 16 years old male who presented with refractory seizures and new onset myoclonic seizure with progressive cognitive decline. Investigations showed a normal MRI brain, normal CSF lactate, and pyruvate. CSF Anti measles antibody was negative. He had mild elevation of serum ammonia. EEG showed polyspike and wave discharge and Somatosensory evoked potential showed a Giant cortical potential. Axillary skin biopsy revealed Lafora Bodies and patient was dia nosed as Lafora body disease. This case highlights the importance of recognizing the syndromic approach in childhood seizures and for its rarity.