Joubert syndrome

Case contributed by Dr Mohammad A. ElBeialy

Presentation

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

Patient Data

Age: 16 months
Gender: Female
MRI
  • 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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Case information

rID: 27965
Published: 28th Feb 2014
Last edited: 20th Aug 2019
Inclusion in quiz mode: Included

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