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Joubert syndrome

Case contributed by Mohammad A. ElBeialy
Diagnosis almost certain

Presentation

Hypotonia, abnormal eye movement, attacks of hyperpnea with tongue protrusion.

Patient Data

Age: 16 months
Gender: Female
mri

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).

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