Presentation
The patient presents with mental retardation and generalised body weakness.
Patient Data
The MRI study shows an enlarged posterior fossa with a dilated cisterna magna communicating with the fourth ventricle. The cerebellar vermis is hypoplastic. There is also elevation of the tentorium cerebelli. These are characteristics of Dandy-Walker malformation.
The bat-wing appearance of the fourth ventricle is seen with elongation of the superior cerebellar peduncles, giving the appearance of a "molar tooth sign," which are features of Joubert syndrome.
Case Discussion
Joubert syndrome is characterised by several abnormalities, including a molar tooth sign on axial MRI imaging. The term Joubert plus syndrome is used there are additional features of the Dandy-Walker syndrome: mega cisterna magna, enlarged posterior fossa, and elevated tentorium cerebelli.
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