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

Abstract

Citation Abduljabbar AH. Characteristic brain imaging fi ndings in a patient with joubert syndrome and segmental glomerulosclerosis. JKAU Med Sci 2015; 22 (2): 53-57. DOI: 10.4197/Med. 22.2.8 Abstract Joubert syndrome is a rare disorder inherited as an autosomal recessive trait. It has distinctive clinical features and specifi c 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.