Joubert's Syndrome: A Report of Two Cases

Mymensingh Med J. 2018 Apr;27(2):404-407.

Abstract

Joubert's syndrome and related disorders are primarily disorder of cerebellar development. It has heterogeneity of presentation that varies from patient to patient. In the recent past we encountered a pair of children who presented with developmental delay, hypotonia and abnormal eye movements. Classic Joubert's syndrome was confirmed on the basis of clinical and neuro-imaging findings. So careful clinical assessment and appropriate neuro-imaging should be done in suspected cases for confirmation of diagnosis. Multidisciplinary evaluation and periodic follow up are needful for every case.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Cerebellum
  • Child
  • Eye Abnormalities* / diagnosis
  • Humans
  • Kidney Diseases, Cystic* / diagnosis
  • Retina
  • Syndrome