Characteristic Brain Imaging Findings in a Patient with Joubert Syndrome and Segmental Glomerulosclerosis

Main Article Content

Ahmed H. Abduljabbar

Abstract


Joubert syndrome is a rare disorder inherited as an autosomal recessive trait. It has distinctive clinical features and specific brain imaging fi ndings on magnetic resonance imaging. Patients present clinically with hyperpnea, apnea, ocular abnormalities, developmental delay and truncal ataxia. In this case report, we illustrate a patient with Joubert syndrome and chronic renal failure. Magmetic resonance imaging examination revealed the characteristic "molar tooth" appearance of the brain stem, "bat-wing" shaped 4th ventricle, cleft vermis and deep interpeduncular fossa consistent with the diagnosis.



 

Article Details

How to Cite
Abduljabbar, A. H. (2015). Characteristic Brain Imaging Findings in a Patient with Joubert Syndrome and Segmental Glomerulosclerosis. Journal of King Abdulaziz University - Medical Sciences, 22(2), 53-57. https://doi.org/10.4197/Med.22-2.8
Section
Case Reports
Author Biography

Ahmed H. Abduljabbar, King Abdulaziz University

Department of Diagnostic Imaging