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Year : 2019  |  Volume : 14  |  Issue : 4  |  Page : 420-422

Lafora body disease: A case of progressive myoclonic epilepsy in an adolescent male

Department of Pathology, Grant Government Medical College, Mumbai, Maharashtra, India

Correspondence Address:
Dr. Sushma Ramraje
2/15, Dhanwantari, Sir J J Hospital Campus, Byculla, Mumbai - 400 008, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdmimsu.jdmimsu_69_18

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Progressive myoclonic epilepsy is defined as a neurological disorder manifesting classically as a trio of progressive myoclonic seizures, cognitive impairment, ataxia, and/or any other neurologic defects. Syndromic association is seen specifically with Unverricht–Lundborg disease, myoclonic epilepsy with ragged red fibers, neuronal ceroid lipofuscinoses, Lafora body disease (LBD), and sialidoses. LBD is characterized by an autosomal recessive inheritance. Adolescent-onset progressive myoclonic epilepsy is seen along with Lafora bodies in the brain, liver, and the ducts of the sweat glands in skin. We hereby present a case of a 17-year-old male, presenting with progressing myoclonus and Lafora bodies in axillary skin biopsy, thereby confirming the diagnosis of LBD.

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