Joubert Syndrome: A Case Report

Authors

  • Prakash Kafle Neurosurgery Department of Neurosurgery, Nobel Medical College& Teaching Hospital, Kathmandu
  • Sushil Krishna Shilpakar Department of Neurosurgery, Institute of Medicine, TU Teaching Hospital, Kathmandu
  • Mohan Raj Sharma Department of Neurosurgery Institute of Medicine, TU Teaching Hospital, Kathmandu
  • Gopal Sedain Department of Neurosurgery, Institute of Medicine, TU Teaching Hospital, Kathmandu
  • Amit K Pradhanang Department of Neurosurgery Institute of Medicine, TU Teaching Hospital, Kathmandu
  • Binod Raj Bhandari Department of Neurosurgery, TUTH

DOI:

https://doi.org/10.3126/njn.v15i1.20023

Keywords:

Joubertsyndrome, Hypotonia, Vermianagenesis, Molar tooth sign, Bat wing appearance

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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Author Biographies

Prakash Kafle, Neurosurgery Department of Neurosurgery, Nobel Medical College& Teaching Hospital, Kathmandu

MS, MCh

Sushil Krishna Shilpakar, Department of Neurosurgery, Institute of Medicine, TU Teaching Hospital, Kathmandu

HOD, Professor of Neurosurgery

Mohan Raj Sharma, Department of Neurosurgery Institute of Medicine, TU Teaching Hospital, Kathmandu

Professor of Neurosurgery

Gopal Sedain, Department of Neurosurgery, Institute of Medicine, TU Teaching Hospital, Kathmandu

Assistant Professor of Neurosurgery

Amit K Pradhanang, Department of Neurosurgery Institute of Medicine, TU Teaching Hospital, Kathmandu

Assistant Professor of Neurosurgery

Binod Raj Bhandari, Department of Neurosurgery, TUTH

MCh Neurosurgery Resident

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Published

2018-05-28

How to Cite

1.
Kafle P, Shilpakar SK, Sharma MR, Sedain G, Pradhanang AK, Bhandari BR. Joubert Syndrome: A Case Report. Nep J Neurosci [Internet]. 2018 May 28 [cited 2024 Nov. 21];15(1):23-6. Available from: https://nepjol.info/index.php/NJN/article/view/20023

Issue

Vol. 15 No. 1 (2018)

Section

Case Report