Joubert syndrome
Case contributed by:
Dr Maxime St-Amant
Presentation:
Follow-up MRI. New onset headaches. The older study wasn't available for comparison.
Patient Data:
Age: 7
Gender: Male
Race: Caucasian
From the case:
Joubert syndrome
Modality:
MRI
MRI shows the characteristic molar tooth apperance of the midbrain, secondary to an absence of fibre decussation in the superior cerebellar penducles and pyramidal tracts. There is also a batwing appearance of the fourth ventricle. Also, there is a dysplastic cerebellar vermis.
Lateral ventricles are not enlarged. Corpus callosum is intact.
References:
- Van beek EJ, Majoie CB. Case 25: Joubert syndrome. Radiology. 2000;216 (2): 379-82. Radiology (citation) - Pubmed citation
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