Axillary Skin Biopsy as an Early Diagnostic Tool in Lafora Disease: A Case Report

Chandni Krishnani¹, Renu Kale², Firoz Sheikh¹, Om Prakash³

Keywords: apocrine glands, epilepsy, myoclonic epilepsy, intracytoplasmic inclusions, Lafora disease, PAS staining, skin biopsy

DOI: 10.63475/yjm.v4i3.0246

DOI URL: https://doi.org/10.63475/yjm.v4i3.0246

Publish Date: 31-12-2025

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Pages: 640 - 643

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Downloads: 4

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Author Affiliation:

1 Associate Professor, Department of Pathology, Raipur Institute of Medical Sciences, Raipur, Chhattisgarh, India
2 Professor, Department of Pediatrics, Raipur Institute of Medical Sciences, Raipur, Chhattisgarh, India
3 PG Resident, Department of Pathology, Raipur Institute of Medical Sciences, Raipur, Chhattisgarh, India

Abstract

Lafora disease is a rare autosomal recessive form of progressive myoclonic epilepsy that usually begins during adolescence. Early diagnosis is often difficult because neuroimaging may be normal, and clinical features can overlap with other causes of refractory seizures. We report the case of a 16-year-old male who presented with recurrent generalized seizures, myoclonus, and a significant family history of similar illnesses. Routine radiological investigations were unremarkable. Histopathological examination of an axillary skin punch biopsy revealed numerous PAS-positive intracytoplasmic inclusions within apocrine gland cells, consistent with Lafora disease. This case highlights the diagnostic value of an axillary skin biopsy as a simple, minimally invasive method for demonstrating characteristic Lafora bodies, particularly in the early phase when clinical suspicion is high, and imaging findings are nonspecific.

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