Presentation
Delayed mental and motor milestones and occipital swelling.
Patient Data
Age: 1 year
Gender: Female
From the case:
Joubert syndrome and related disorders
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Hypoplasia of the cerebellar vermis giving a molar tooth appearance.
Small atretic occipital meningocele.
From the case:
Joubert syndrome and related disorders
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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.