Lafora Disease with Myoclonic Epilepsy

Lafora disease with myoclonic epilepsy, a rare autosomal recessive disorder of juveniles, is caused by mutations in the gene EPM2A, located on chromosome 6. The disease presents with tonic-clonic seizures, widespread stimulus-induced myoclonic jerks, hearing impairment, ataxia, and mental regression. Over several years, the disease progresses to total disability. Death usually occurs in the third decade of life.

Grossly, the brain may show generalized atrophy. Histologically, polyglycosan bodies, also called Lafora bodies, are found in the perikaryon and dendrites of the neurons in the cerebral cortex, subcortical gray structures, cerebellar nuclei, and brainstem. Outside the nervous system, they occur in the ganglion cells of the retina, in the skeletal and cardiac muscles, in the liver, and in sweat glands in the skin. The presence of Lafora bodies in a biopsy of skin or liver confirms the diagnosis.

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