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Joubert syndrome and related disorders

Case contributed by Ahmed Abdrabou
Diagnosis certain

Presentation

Delayed mental and motor milestones and occipital swelling.

Patient Data

Age: 1 year
Gender: Female

Hypoplasia of the cerebellar vermis giving a molar tooth appearance.

Small atretic occipital meningocele.

Hypoplasia of the cerebellar vermis with thinning and elongation of the superior cerebellar peduncles giving rise of molar tooth appearance and bat wing configuration of the 4th ventricle. 

Small occipital atretic meningocele.

Case Discussion

The MRI findings are consistent with Joubert syndrome and related disorders, in this case, an occipital meningocele. The patient underwent genetic testing which confirmed the diagnosis.

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