Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings
Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings
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DOI：
10.1016/j.ejpn.2006.09.007
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发表时间：
2007-01-01
影响因子：
3.1
通讯作者：
Harbi, Abdelaziz
中科院分区：
文献类型：
--
作者：
Chemli, Jalel;Abroug, Mejdi;Harbi, Abdelaziz
菱形脑突触症是一种罕见的小脑畸形，病因不明，主要表现为脑半球发育不全或发育不全，脑半球与齿状核融合。临床表现和预后是非常多变的，通常取决于一个相关的幕上异常。我们报告的第一个突尼斯病例RES诊断通过磁共振成像（MRI）在一个3.5岁的男孩出生的近亲父母。该患儿有痉挛性双瘫、面部畸形、骨骼异常和正常的智力发育。其他幕上异常包括透明隔发育不全、中度脑积水和胼胝体发育不全。本文就该病的临床和MRI表现及可能的发病机制进行讨论。(c) 2006年欧洲儿科神经病学学会。Elsevier Ltd.出版。版权所有。
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. (c) 2006 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.