Abstract
Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, eye movement disturbance, and neonatal respiratory disturbance. Neuroradiological findings show cerebellar vermis hypoplasia or aplasia, deep interpeduncular fossa, and thick and elongated superior cerebellar peduncles called molar-tooth-sign. As well, criteria for Joubert syndrome-related disorders are classified by complications such as pigmented retinopathy, coloboma, nephronophthisis, and liver fibrosis. Nephronophthisis is an especially important complication affecting life expectancy. Patients with nephronophthisis do not present with proteinuria and/or hematuria, but with a high level of urinary beta 2 microglobulin and low urinary specific gravity. Progressive anemia and renal function disorders usually occur in the years before adolescence.
We report a Joubert syndrome patient who died of end-stage renal failure with nephronophthisis at 46 years of age. A search of the literature failed to reveal any other cases of Joubert syndrome who died of nephronophthisis at an age over forty years. Even in post-adolescence Joubert syndrome patients, care needs to be taken for signs of nephronophthisis.
