Joubert syndrome (JS): MRI features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Joubert syndrome (JS): MRI features. Molar tooth sign (MTS), Vermian hypoplasia (VH), Displaced cerebellar vermis. Fully referenced neurology checklist.

Magnetic resonance imaging (MRI): posterior fossa features

  • Molar tooth sign (MTS)
  • Vermian hypoplasia (VH)
  • Displaced cerebellar vermis
  • Horizontal, elongated, and thick superior cerebellar peduncles
  • Abnormal brainstem morphology
  • Enlarged 4th ventricle
  • Deep interpeduncular fossa
  • Retrocerebellar arachnoid cyst

Magnetic resonance imaging (MRI): other features

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References

  1. Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. Am J Neuroradiol 2011; 32:1459-1463.
  2. Spampinato MV, Kraas J, Maria BL, Walton ZJ, Rumboldt Z. Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome. Am J Med Genet A 2008; 146A:1389-1394.
  3. Dirik MA, Yiş U, Dirik E. Molar tooth sign is not pathognomonic for Joubert syndrome. Pediatr Neurol 2013; 49:515-516.
  4. Baldawa S. An unusual association of classical Joubert syndrome with retrocerebellar arachnoid cyst. Childs Nerv Syst 2016; 32:1181-1182.
  5. Sturm V, Leiba H, Menke MN, et al. Ophthalmological findings in Joubert syndrome. Eye (Lond) 2010; 24:222-225.
  6. And 1 more. Subscribe to see the full list

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