A CASE OF LAFORA BODY DISEASE
Abstract
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.
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