Format

Send to

Choose Destination
Saudi J Kidney Dis Transpl. 2011 Jul;22(4):788-91.

Joubert syndrome with nephronophthisis in neurofibromatosis type 1.

Author information

1
Department of Pediatric Nephrology, B.J. Wadia Hospital for Children, Parel, Mumbai, India. docjaved@gmail.com

Abstract

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.

PMID:
21743231
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Medknow Publications and Media Pvt Ltd
Loading ...
Support Center