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Brain stem and cerebellar findings in Joubert syndrome
Journal article   Peer reviewed

Brain stem and cerebellar findings in Joubert syndrome

Ibrahim A Alorainy, Sohail Sabir, Mohammed Z Seidahmed, Hamid A Farooqu and Mustafa A Salih
Journal of computer assisted tomography, Vol.30(1), pp.116-121
01/01/2006
PMID: 16365585

Abstract

Abnormalities, Multiple Brain Stem - abnormalities Cerebellar Ataxia - diagnostic imaging Cerebellar Ataxia - pathology Cerebellar Diseases - diagnostic imaging Cerebellar Diseases - pathology Cerebellum - abnormalities Child, Preschool Developmental Disabilities Female Humans Infant Magnetic Resonance Imaging Male Muscle Hypotonia Ocular Motility Disorders Prognosis Syndrome Tomography, X-Ray Computed
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.

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