[Nephronophthisis, tapeto-retinal degeneration, encephalopathy and vermian agenesis: a new association. Apropos of 3 familial cases]

Abstract

We observed a combination of nephronophthisis, tapetoretinal degeneration, vermian agenesis and encephalopathy in three first cousins. Juvenile nephronophthisis, the main inherited renal disease of childhood, is occasionally associated with a genetically linked disease involving the eyes and/or bone and/or liver and/or nervous system. We have assembled approximately one hundred cases of complex nephronophthisis. We discuss the various associations, among which the Senior syndrome (nephronophthisis + tapetoretinal degeneration) is the most frequent. The familial combination seen in our patients has apparently not been previously reported and seems to represent a new expression of the disease.