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Updated: Sep 27, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?
Salim Atrouni1, Antoine Darazé, Jean Tamraz
1Service de Neurologie, Hôpital Makassed, Beirut, Lebanon.
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.
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