Analysis of CT and MRI Manifestations of Joubert Syndrome

Da-Wei Liao; Xue Zheng

doi:10.5334/jbsr.3283

Analysis of CT and MRI Manifestations of Joubert Syndrome

J Belg Soc Radiol. 2023 Sep 29;107(1):78. doi: 10.5334/jbsr.3283. eCollection 2023.

Authors

Da-Wei Liao¹, Xue Zheng¹

Affiliation

¹ Department of Radiology, the Affiliated Hospital of Southwest Medical University, Luzhou, China.

Abstract

Objective: To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS).

Method: In this retrospective analysis, we investigated the clinical and imaging characteristics of JS in a cohort of twelve pediatric patients with confirmed diagnoses. Specifically, we analyzed both computed tomography (CT) and magnetic resonance imaging (MRI) manifestations in this population. CTs were performed on four patients and MRIs were performed on twelve, respectively.

Results: JS is characterized by specific CT and MRI findings, including midline fissure, batwing, or triangular formations of the fourth ventricle between the bilateral cerebellar hemispheres, and molar sign at the midbrain level. All twelve cases in this cohort exhibited these traits, along with other cerebral abnormalities, such as dysplasia of the corpus callosum in two cases, gray matter heterotopia in one case, and occipital meningocele in one case.

Conclusion: JS has distinctive CT and MRI characteristics that can be clinically identified.

Keywords: CT; Joubert syndrome; MRI; dysplasia of the cerebellar vermis.