Joubert syndrome

Case contributed by Aneesh Km
Diagnosis almost certain

Patient Data

Age: 20 years
Gender: Male
mri

There are thickening and elongation of the superior cerebellar peduncle with hypoplasia of the isthmus and deep anterior cleft in the midbrain giving a molar tooth appearance. The interpeduncular fossa is also prominent. In addition, there is hypoplasia of cerebellar vermis with incomplete lobulation and mildly enlarged 4th ventricle, giving the bat wing appearance.

Case Discussion

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