Joubert syndrome with nephronophthisis in neurofibromatosis type 1

Abstract EN

Jobber syndrome (JS) is a rare developmental disorder of the central nervous system, characterized by brainstem and cerebellar malformations, hypertonia, episodic hyper apnea and apnea and mental retardation.

It may be associated other systemic abnormalities like ocular (e.g., retinal dysplasia, etc.), coulometer, musculoskeletal and renal (e.g., cystic dysplasia, nephron phthisis), with renal failure.

We describe a case of JS with nephron phthisis in neurofibromatosis Type 1 leading to end-stage renal disease, an association that has never been described earlier in the medical literature to the best of our knowledge.