Presentation
History of hepatic fibrosis
Patient Data
Age: 13 years old
Gender: Female
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Mild cerebellar vermian hypoplasia associated with abnormally dilated 4th ventricle with bat wing appearance and molar tooth configuration of midbrain are seen related to Joubert syndrome.
Slight dilation of supratentorial ventricles is also notable.
Normal cortical gyration is seen. No intracranial mass is detected.
Case Discussion
The cerebellar vermian hypoplasia, as well as molar tooth brainstem and Bat-wing or umbrella-shaped 4th ventricle together with cleft vermis, are diagnostic of Joubert syndrome.