Affiliations: Department of Radiology, the University Hospital, King
Abdulaziz University, Jeddah, Saudi Arabia | Departments of Pediatrics Dr. Erfan and Bagedo
Hospital, Jeddah, Saudi Arabia | Departments of Radiology, Dr. Erfan and Bagedo
Hospital, Jeddah, Saudi Arabia
Note: [] Correspondence: Sattam S. Lingawi, M.D., FRCPC P.O. Box 54403
Jeddah 21514, Saudi Arabia. Tel: 9662-6408163; E-mail: [email protected]
Abstract: To evaluate the accuracy of neuroimaging in establishing the
diagnosis of Joubert syndrome. Computed tomography (CT) and magnetic resonance
imaging (MRI) were performed in seven infants/children with the clinical
diagnosis of Joubert syndrome. The clinical diagnoses were based on
characteristic clinical features. The CT scans were performed on a single
detector helical CT scans and the MRI were performed on 1-T and 1.5-T MRI
systems. All studies were evaluated for the presence of cerebellar vermian
aplasia/hypoplasia, cerebellar hypoplasia, horizontal alignment of the superior
cerebellar peduncle, "molar tooth" configuration of the brainstem and "bat
wing" appearance of the fourth ventricle. Other neuroimaging abnormalities such
as hydrocephalus, dysgenesis of the corpus callosum were also reported.
Cerebellar vermian hypoplasia with a midline cleft, horizontal alignment of the
superior cerebellar peduncle, "molar tooth" configuration of the brainstem and
dilated fourth ventricle with "bat wing" appearance in all patients. Cerebellar
hemisphere hypoplasia was seen only in three cases. Brainstem molar tooth sign,
fourth ventricular bat wing sign and the horizontal orientation of the superior
cerebellar peduncles are characteristic findings Joubert syndrome. (J Pediatr
Neurol 2004; 2(1): 33–37).
