CT and MRI diagnosis of Joubert syndrome / 中华放射学杂志

ABSTRACT

Objective To study imaging features of Joubert syndrome on CT and MRI. Methods Ten cases with clinically diagnosed Joubert syndrome were retrospectively studied. Routine CT examinations were performed in all ten cases and MRI in four cases. Results He typical imaging features of Joubert syndrome included “midline cleft” between cerebellar hemispheres, “bat-wing” and “triangular-shaped” fourth ventricle, and “molar tooth sign”. On CT images, all cases had “midline cleft”, “bat-wing” and “triangular-shaped” fourth ventricle was present in nine cases, and “molar tooth sign” in eight cases. On MRI, “midline cleft”,“bat-wing” and “triangular-shaped” fourth ventricle , and “molar tooth sign” were present in all four cases. Conclusion There are typical imaging features of Joubert syndrome. CT and MRI play an important role for the diagnosis.