MRI diagnosis of Joubert syndrome and its differential diagnosis / 中华神经医学杂志

ABSTRACT

Objective To study the clinical and MR imaging features of patients with Joubert syndrome to improve the understanding of this disorder and the diagnosis accuracy.Methods A retrospective study of clinical and MR imaging data was performed in 3 pediatric patients had definite diagnosis of Joubert syndrome; and a comprehensive review of literature was presented.Results All 3 patients showed typical manifestations of complex brainstem malformations on MR imaging which comprised the "molar tooth sign" on midbrain level,"thin median cleft" separating cerebellar hemispheres and "bat wing" appearance of the fourth ventricle due to the cerebellar vermis hypoplasia.Clinically,hypotonia,intermittent irregular breathing pattern (with apnea in 1 patient) and developmental delay/mental retardation in infancy in all 3 patients and abnormal eye movements (episodic deviation to lateral extremes of gaze) in 1 patient were noted.Conclusion Joubert syndrome is characterized on MR imaging,but clinical data is necessary for an exact diagnosis; differentiation should be made with the other disorders due to the hypoplasia of cerebellar vermis.