title: Joubert syndrome with nephronophthisis in neurofibromatosis type 1.
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.
authors: Department of Pediatric Nephrology, B.J. Wadia Hospital for Children, Parel, Mumbai, India. docjaved@gmail.com
authors: Javed
authors: J
authors: Ahmed
authors: Uma S
authors: US
authors: Ali
mesh_terms: D000015:Abnormalities, Multiple; D001706:Biopsy; D002526:Cerebellar Diseases / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D052177:Kidney Diseases, Cystic / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D012160:Retina / Q000002:abnormalities