Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome

Abstract

Joubert syndrome (JS) is characterized by absence of decussation of both corticospinal tracts and superior cerebellar peduncles (SCP). Our hypothesis was that evidence for absence of SCP decussation may be found on routine brain MRI studies. Midsagittal T1-weighted images from 20 JS patients and 30 age-matched controls were retrospectively reviewed. An ill-defined area of lower T1 signal in the inferior midbrain was considered the sign of SCP decussation, and its presence or absence was noted. Fractional anisotropy (FA) maps were obtained in three JS patients and four controls. The SCP decussation was not visualized in any subject under 30 months of age. In subjects above 30 months of age the sign of the SCP decussation was absent in all 6 JS patients and present in all 16 controls. FA maps confirmed the absence of the SCP decussation in the JS patients. The SCP decussation is well seen on routine brain MRI studies in controls older than 30 months of age and absent in all JS patients, confirming the proposed lack of commissural fibers in JS, and accounting in part for the molar tooth sign.