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Joubert syndrome: a clinico-radiological study
B Kendall1, D Kingsley, S R Lambert
1Department of Neuroradiology, Hospital for Sick Children, London, England.
Insights
Joubert syndrome, a rare brain malformation, involves cerebellar vermis and brainstem abnormalities. Early diagnosis through CT or MRI is crucial for affected children with developmental delays.
Area of Science:
- Neurology
- Medical Imaging
- Pediatrics
Background:
- Joubert syndrome is a rare genetic disorder affecting brain development.
- Characteristic malformations include cerebellar vermis dysgenesis and brainstem hypoplasia.
Purpose of the Study:
- To identify key neuroimaging findings suggestive of Joubert syndrome in children.
- To correlate neuroimaging findings with clinical manifestations.
Main Methods:
- Retrospective review of 16 children with characteristic cerebellar malformations on computed tomography (CT).
- Magnetic resonance imaging (MRI) was performed on seven of these children.
- Clinical data including developmental status and associated abnormalities were analyzed.
Main Results:
- All 16 children exhibited cerebellar vermis dysgenesis and fourth ventricle enlargement on CT.
- MRI revealed additional brainstem hypoplasia in seven children.
- One child also presented with corpus callosum dysgenesis.
- Clinical features included developmental delay, neonatal breathing issues, retinal dystrophy, and ocular motor abnormalities.
Conclusions:
- Cerebellar vermis dysgenesis and brainstem hypoplasia on CT or MRI are strong indicators for suspecting Joubert syndrome.
- These neuroimaging findings, coupled with specific clinical signs, aid in early diagnosis and management.
Abstract:
A characteristic malformation of the cerebellum, including dysgenesis of the vermis and enlargement of the fourth ventricle was observed on computed tomography (CT) in 16 children on review of our consecutive material. Seven of these children underwent magnetic resonance imaging (MRI) which showed hypoplasia of the brainstem in addition to cerebellar vermian dysgenesis. One child had, in addition, dysgenesis of the corpus callosum. All these children were developmentally delayed, and many had neonatal breathing abnormalities, congenital retinal dystrophy and supranuclear ocular motor abnormalities. Joubert's syndrome should be suspected in children in whom dysgenesis of the cerebellar vermis and hypoplasia of the brainstem is shown on CT or MRI.