2018•Nepal Journal of NeuroscienceOpen access

Joubert Syndrome: A Case Report

Prakash Kafle, Sushil Krishna Shilpakar, Mohan Raj Sharma, Gopal Sedain, Amit K Pradhanang, Binod Raj Bhandari

Abstract

Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. Magnetic Resonance Imaging (MRI) reveals the characteristic Molar tooth sign of midbrain and Batwing appearance of rostral fourth ventricle. Nepal Journal of Neuroscience 15:23-26, 2018

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Key concepts: Joubert syndrome, Cerebellar vermis, Hypotonia, Brainstem, Agenesis, Fourth ventricle, Magnetic resonance imaging, Midbrain