title: Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?
abstract: We describe a large inbred Syrian pedigree with an autosomal recessive neurodegenerative disorder. The clinical picture of the affected patients is oligodontia, and a degenerative neurological condition with onset around age 12, characterized by progressive ataxia and pyramidal syndrome. Abnormalities in the white matter and cortical atrophy were assessed by magnetic resonance imaging. Differential diagnosis and the possibility of a fortuitous association or the report of a hitherto unreported dento-leukoencephalopathy are discussed.
authors.affiliation: Service de Neurologie, Hôpital Makassed, Beirut, Lebanon.
authors.forename: Salim
authors.initials: S
authors.lastname: Atrouni
authors.forename: Antoine
authors.initials: A
authors.lastname: Darazé
authors.forename: Jean
authors.initials: J
authors.lastname: Tamraz
authors.forename: Antoine
authors.initials: A
authors.lastname: Cassia
authors.forename: Catherine
authors.initials: C
authors.lastname: Caillaud
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: D000293:Adolescent; D000328:Adult; D000848:Anodontia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000473:pathology*; D002648:Child; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D011859:Radiography