Presentation
Unable to fix gaze
Patient Data
Age: 3 months
Gender: Male
From the case:
Joubert syndrome
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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.