Résumé
A 6-year-old girl who presented with developmental delay and non-progressive ataxia is described. MRI of brain showed agenesis of cerebellar vermis with fusion of cerebellar hemispheres and dentate nuclei. MRI findings were characteristic of rhombencephalosynapsis. Partial agenesis of corpus callosum and absent septum pellucidum were also seen. The child had also been noted to have a single umbilical artery at birth: a hitherto undescribed association.
Sujets)
Malformations multiples , Ataxie cérébelleuse/diagnostic , Cervelet/malformations , Enfant , Corps calleux/malformations , Diagnostic différentiel , Femelle , Humains , Imagerie par résonance magnétique , Rhombencéphale/malformations , Artères ombilicales/imagerie diagnostiqueRésumé
An unusual disorder of cerebellar development, rhombencephalosynapsis is a unique entity which presents with cerebellar fusion and absence of cerebellar vermis on imaging studies, often associated with supratentorial findings. No specific clinical syndrome has been described in these patients so far, and most cases are found in infancy and childhood. MRI and its multiplanar capabilities and high spatial and contrast resolution increased its recognition. Two cases are reported, with emphasis on imaging findings.