Joubert Syndrome: A Case Report

Joubert Syndrome: A Case Report

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...

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Bibliographic Details
Main Authors: Prakash Kafle, Sushil Krishna Shilpakar, Mohan Raj Sharma, Gopal Sedain, Amit K Pradhanang, Binod Raj Bhandari
Format: Article
Language:English
Published: NESON 2018-05-01
Series:Nepal Journal of Neuroscience
Subjects:
joubertsyndrome
hypotonia
vermianagenesis
molar tooth sign
bat wing appearance
Online Access:https://www.nepjol.info/index.php/NJN/article/view/20023
Description
Summary: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.
ISSN:1813-1948
1813-1956

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