title: [Lafora disease: histopathological study of axillary cutaneous biopsy].
abstract: Lafora body disease is a common and severe form of progressive myoclonic epilepsy. It is an autosomal recessive disorder with a gene locus recently mapped to chromosome 6q23-27. The disease presents between the age of 10 and 18 years with generalised seizures followed by myoclunus. Intellectual deterioration occurs early and progresses to dementia. The diagnosis must be usually confirmed by demonstrating Lafora bodies. The practical procedure is the axillary skin biopsy that shows PAS positive inclusion in the cells of the sweet ducts. We present a case of Lafora disease discovered in a 26-year-old man. Moreover, we emphasize on the diagnosis difficulties of this disease.
authors.affiliation: Laboratoire d'anatomie et cytologie pathologiques, CHU Habib Bourguiba, 3029 Sfax, Tunisie.
authors.forename: Héla
authors.initials: H
authors.lastname: Mnif
authors.forename: Meriam
authors.initials: M
authors.lastname: Ksentini
authors.forename: Makki
authors.initials: M
authors.lastname: Gheriani
authors.forename: Slim
authors.initials: S
authors.lastname: Charfi
authors.forename: Rim
authors.initials: R
authors.lastname: Kallel
authors.forename: Saloua
authors.initials: S
authors.lastname: Makni
authors.forename: Tahya Sellami
authors.initials: TS
authors.lastname: Boudawara
mesh_terms: D000328:Adult; D000682:Amyloid; D001365:Axilla; D001706:Biopsy; D003241:Consanguinity; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D020192:Lafora Disease / Q000473:pathology*; D008297:Male; D010503:Periodic Acid-Schiff Reaction; D012867:Skin / Q000473:pathology*; D013545:Sweat Glands / Q000473:pathology
chemical_list: D000682:Amyloid