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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings
European Journal of Paediatric Neurology, Volume 11, No. 1, Year 2007
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Description
Rhombencephalosynapsis (RES) is a rare cerebellar malformation of unknown etiology characterized by vermal agenesis or hypogenesis, fusion of hemispheres and the dentate nuclei. Clinical presentation and prognosis are extremely variable and generally depends one the associated supratentorial anomalies. We report the first Tunisian case of RES diagnosed by magnetic resonance imaging (MRI) in a 3.5-year-old boy born to consanguineous parents. The child had spastic diplegia, facial dysmorphia, skeletal anomalies and normal intellectual development. Additional supratentorial anomalies were agenesis of septum pellucidum, moderate hydrocephalus and hypogenesis of corpus callosum. In this paper, the clinical and MRI findings and possible pathogenesis of this disorder are discussed. © 2006 European Paediatric Neurology Society.
Authors & Co-Authors
Chemli, Jalel
Tunisia, Sousse
Chu Sahloul
Abroug, M.
Tunisia, Sousse
Chu Sahloul
Tlili-Graiess, Kalthoum
Tunisia, Sousse
Chu Sahloul
Harbi, Abdelaziz
Tunisia, Sousse
Chu Sahloul
Statistics
Citations: 40
Authors: 4
Affiliations: 1
Identifiers
Doi:
10.1016/j.ejpn.2006.09.007
ISSN:
10903798
Research Areas
Maternal And Child Health
Participants Gender
Male