Joubert Syndrome: Imaging Findings and Report of a Case

  • Asmaa H. Alsharea Resident, Department of Radiology, Al-Yarmuk Teaching Hospital, Baghdad, Iraq.
  • Qays A. Hassan Radiologist specialist, Section of Radiology, Department of Surgery, Al-kindy College of Medicine, University of Baghdad.
Keywords: Joubert syndrome, Magnetic resonance imaging, Molar tooth sign, Vermian agenesis, Case report

Abstract

Background: Joubert syndrome (JS) is a very rare autosomal recessive disorder characterized by agenesis of cerebellar vermis, abnormal eye movements, respiratory irregularities, and delayed generalized motor development. Retinal dystrophy and cystic kidneys may also be associated with this clinical syndrome. The importance of recognizing JS is related to the outcome and its potential complications. This syndrome is difficult to diagnose clinically because of its variable phenotype. Its neuroimaging hallmarks include the characteristic molar tooth sign and bat wing-shaped fourth ventricle.

Published
2018-05-07