yemenjmedYemen Journal of MedicinecoVolume 4 Issue 3MultidisciplinaryEnglishSeptember- December 2025NNY20251231ArticleAxillary Skin Biopsy as an Early Diagnostic Tool in Lafora Disease: A Case ReportEnglishY640643ChandniKrishnani1EnglishNRenuKale2EnglishYFirozSheikh1EnglishYOmPrakash3EnglishY10.63475/yjm.v4i3.0246Lafora 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.Englishapocrine glands, epilepsy, myoclonic epilepsy, intracytoplasmic inclusions, Lafora disease, PAS staining, skin biopsyhttps://yemenjmed.com/admin/abstract?id=305References1619