Polypharmacy's paradox: accelerated decline in a rare case of Lafora body disease.

PURPOSE: Lafora body disease (LBD) is a rare autosomal recessive progressive myoclonic epilepsy characterized by neurodegene-ration due to an intracellular accumulation of poorly branched polyglucosan inclusions. Effective pharmacological management remains challenging due to the risk of drug-induced exacerbation of symptoms and adverse interactions.

CASE DESCRIPTION: We present the case of an 18-year-old male with intractable seizures, myoclonus, and cognitive regression. Electroencephalogram showed frequent generalized polyspike discharges, and histopathology confirmed Lafora bodies. The patient was initially prescribed a broad polypharmacy regimen including sodium valproate, carbamazepine, phenytoin, and phenobarbitone - leading to detrimental pharmacokinetic and pharmacodynamic interactions, worsening his neurological status. A stepwise revision with withdrawal of contraindicated agents and rational introduction of levetiracetam, clobazam, and perampanel improved seizure control and alertness.

COMMENT: This case highlights the hazards of unstructured polypharmacy in LBD and stresses the need for individualized pharmacotherapy. Novel disease-modifying options like metformin, targeting glycogen metabolism, offer future therapeutic potential in altering disease trajectory.