Presentation
Developmental delay
Patient Data
Age: 9 months
Gender: Male
From the case:
Joubert syndrome
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Hypoplastic cerebellar vermis with cerebellar hemispheres apposed in midline (though not fused).
Superior cerebellar peduncles are thickened and elongated. Associated prominence of 4th ventricle (bat wing configuration) is seen.
Retrocerebellar arachnoid cyst is seen on left side, crossing midline, measuring approx. 15mm in maximum thickness.
No obvious abnormality is seen in supratentorial brain parenchyma.
Case Discussion
Findings are consistent with Joubert syndrome.
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