Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia.
Familial juvenile nephronophthisis (FJN) is an autosomal-recessive disease which may exist as an isolated nephropathy or in combination with degenerative involvement of certain oran systems. The case reported describes a new variant of this lethal syndrome consisting of FJN, hepatic fibrosis, and neurocutaneous dysplasia (hypoplastic vermis of the cerebellum, choroid coloboma, and naevus flammeus). The same condition was probably present in the patient's sister who had also died at 6 years of age.
D002524:Cerebellar Ataxia / Q000150:complications; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D008103:Liver Cirrhosis / Q000150:complications*