Joubert Syndrome: A Case Report

  • 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
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
Published
2018-05-28
How to Cite
Kafle, P., Shilpakar, S., Sharma, M., Sedain, G., Pradhanang, A., & Bhandari, B. (2018). Joubert Syndrome: A Case Report. Nepal Journal of Neuroscience, 15(1), 23-26. https://doi.org/10.3126/njn.v15i1.20023
Section
Case Report