Joubert Syndrome: Reports of Two Cases

Authors

  • Gopen Kumar Kundu Associate professor & Chairman, Department of Pediatric Neurology, BSMMU, Dhaka
  • Bikush Chandra Paul MD Resident, Phase-B (Pediatric Neurology and Neurodevelopment) Department of Pediatric Neurology, BSMMU, Dhaka
  • Krishna Mohon Poddar MD Resident, Phase-B(Pediatric Neurology and Neurodevelopment) Department of Pediatric Neurology, BSMMU, Dhaka

DOI:

https://doi.org/10.3329/jbcps.v39i2.52393

Keywords:

Joubert syndrome, molar tooth sign, neuro-radiological findings.

Abstract

Joubert syndrome related disorder(JSRD) is an autosomal recessive disorder characterized by hypotonia, abnormal eye movement,ataxia and breathing disturbance. The hall mark of the disease isthe presence of molar tooth malformationin magnetic resonance imaging (MRI) of brain. Diagnosis ofJSRD is based on clinical and neuro-radiological findings. Early and accurate diagnosis can help in planning the early intervention measures to reduce morbidity. Here, we report two cases. The first case, a 15 month old female baby, presented with hypotonia, polydactyly and seizure with molar tooth sign (MTS) in the MRI of brain.The second case, a three and a half-year-old child presented with developmental delay, hypotonia, abnormal eye movement, seizure and classical MTS in MRI of brain.

J Bangladesh Coll Phys Surg 2021; 39(2): 132-136

Downloads

Download data is not yet available.
Abstract
246
PDF
283

Downloads

Published

2021-03-09

How to Cite

Kundu, G. K., Paul, B. C., & Poddar, K. M. (2021). Joubert Syndrome: Reports of Two Cases. Journal of Bangladesh College of Physicians and Surgeons, 39(2), 132–136. https://doi.org/10.3329/jbcps.v39i2.52393

Issue

Section

Case Reports