Joubert's Syndrome: A Case Report

Authors

  • Abid Amin SKIMS Medical College Hospital Bemina Srinagar Kashmir
  • Arshad Farooq Professor in Paediatrics, Sher-i-kashmir Institute of Medical Sciences and Medical College Hospital Bemina
  • Ali M Lone Resident in Surgery, Sher-i-kashmir Institute of Medical Sciences Soura
  • Hakim Irfan Resident in Paediatrics, Sher-i-kashmir Institute of Medical Sciences and Medical College Hospital Bemina
  • Shayiq Wani Resident in Paediatrics, Sher-i-kashmir Institute of Medical Sciences and Medical College Hospital Bemina
  • Raashid Hamid Resident in Surgery, Sher-i-kashmir Institute of Medical Sciences Soura

Keywords:

Joubert's syndrome, molar tooth sign, cerebellar peduncles, vermis hypoplasia

Abstract

Joubert's syndrome is an autosomal recessive congenital disorder having characteristic clinical features like hypotonia, ataxia, developmental delay and many neurological problems. Other variable features include retinal dystrophy, cystic kidney disease liver fibrosis etc. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.

Key words: Joubert's syndrome; molar tooth sign; cerebellar peduncles; vermis hypoplasia.

DOI: 10.3126/jnps.v31i2.3908

J Nep Paedtr Soc 2010;31(2):141-142

Author Biography

Abid Amin, SKIMS Medical College Hospital Bemina Srinagar Kashmir

Pediatrics, Senior Resident

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Published

2011-05-06

Issue

Vol. 31 No. 2 (2011)

Section

Case Reports