Saudi Journal of Kidney Diseases and Transplantation

CASE REPORT
Year
: 2011  |  Volume : 22  |  Issue : 4  |  Page : 788--791

Joubert syndrome with nephronophthisis in neurofibromatosis type 1


Javed Ahmed, Uma S Ali 
 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
India

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.


How to cite this article:
Ahmed J, Ali US. Joubert syndrome with nephronophthisis in neurofibromatosis type 1.Saudi J Kidney Dis Transpl 2011;22:788-791


How to cite this URL:
Ahmed J, Ali US. Joubert syndrome with nephronophthisis in neurofibromatosis type 1. Saudi J Kidney Dis Transpl [serial online] 2011 [cited 2021 Apr 11 ];22:788-791
Available from: https://www.sjkdt.org/article.asp?issn=1319-2442;year=2011;volume=22;issue=4;spage=788;epage=791;aulast=Ahmed;type=0