Home About us Current issue Ahead of Print Back issues Submission Instructions Advertise Contact Login   

Search Article 
Advanced search 
Saudi Journal of Kidney Diseases and Transplantation
Users online: 1624 Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size 

CASE REPORT Table of Contents   
Year : 2011  |  Volume : 22  |  Issue : 4  |  Page : 788-791
Joubert syndrome with nephronophthisis in neurofibromatosis type 1

Department of Pediatric Nephrology, B.J. Wadia Hospital for Children, Parel, Mumbai, India

Correspondence Address:
Javed Ahmed
Department of Pediatric Nephrology, B.J. Wadia Hospital for Children, Parel, Mumbai
Login to access the Email id

PMID: 21743231

Rights and Permissions

Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation. It may be associated other systemic abnormalities like ocular (e.g., retinal dysplasia, etc.), oculomotor, musculoskeletal and renal (e.g., cystic dysplasia, nephronophthisis), with renal failure. We describe a case of JS with nephronophthisis in neurofibromatosis Type 1 leading to end-stage renal disease, a association that has never been described earlier in the medical literature to the best of our knowledge.

Print this article  Email this article

  Similar in PUBMED
    Search Pubmed for
    Search in Google Scholar for
   Citation Manager
  Access Statistics
   Reader Comments
   Email Alert *
   Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded462    
    Comments [Add]    
    Cited by others 1    

Recommend this journal