Joubert syndrome

Case contributed by Utkarsh Kabra
Diagnosis certain

Presentation

Unable to fix gaze

Patient Data

Age: 3 months
Gender: Male
mri

Hypoplastic cerebellar vermis with cerebellar hemispheres apposed in the midline (though not fused). Superior cerebellar peduncles are thickened and elongated (molar tooth appearance). Associated prominence of 4th ventricle (batwing configuration) is seen.

Mega cisterna magna is seen.

No obvious abnormality is seen in supratentorial brain parenchyma.

Case Discussion

Typical findings of Joubert syndrome.

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