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Brain Stem and Cerebellar Findings in Joubert Syndrome

Alorainy, Ibrahim A MD*; Sabir, Sohail FRCR*; Seidahmed, Mohammed Z MD‡; Farooqu, Hamid A FRCR§; Salih, Mustafa A MD†

Journal of Computer Assisted Tomography: January/February 2006 - Volume 30 - Issue 1 - pp 116-121
Neuroimaging: Pictorial Essay

Joubert syndrome is often missed clinically and radiologically if not enough attention is paid to its subtle and variable clinical presentation and the imaging findings in the posterior fossa. The purpose of this paper is to illustrate the brain stem and cerebellar imaging findings in Joubert syndrome. Awareness of the clinical and neuroimaging findings in Joubert syndrome and maintenance of a high index of suspicion are essential to correctly diagnose this rare congenital malformation.

From the *Department of Radiology & Medical Imaging, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia; †Department of Pediatrics, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia; ‡Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia; and §Department of Radiology, Security Forces Hospital Riyadh, Saudi Arabia.

Received for publication August 1, 2005; accepted October 11, 2005.

Reprints: Dr. Ibrahim Alorainy, P.O. Box 9047, Riyadh 11413, Saudi Arabia (e-mail: alorainy@ksu.edu.sa).

© 2006 Lippincott Williams & Wilkins, Inc.