Presentation
Hypotonia, abnormal eye movement, attacks of hyperpnea with tongue protrusion.
Patient Data
Age: 16 months
Gender: Female
From the case:
Joubert syndrome
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Multiple abnormalities are demonstrated:
- abnormal configuration of the midbrain with typical "molar tooth" appearance
- enlarged 4th ventricle with "bat-wing" configuration and enlarged cisterna magna
- absent cerebellar primary fissure and fastigial point
- hypoplasia of the vermis with clefting of the superior cerebellar vermis
- pituitary hypoplasia
Case Discussion
Molar tooth configuration of the midbrain with vermian hypoplasia and clefting are typical diagnostic findings for Joubert syndrome (congenital vermian hypoplasia).