Joubert syndrome (JS): MRI features

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

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.
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Related checklists

• Joubert syndrome (JS): genetic classification
• Joubert syndrome (JS): clinical features