Juvenile nephronophthisis with calcification of basal ganglia and pancreatic insufficiency

Juvenile nephronophthisis is a major cause of progressive renal failure in children. Its manifestations are varied and protean. It is a multisystem syndrome, encompassing and overlapping related disorders. We treated a 4-year-old girl who presented with various manifestations of progressive renal failure characteristic of juvenile nephronophthisis, in addition to calcification of the basal ganglia and pancreatic lipomatosis, two associated conditions hitherto undescribed. It is hoped that further reports of other associated conditions may help to clarify further the nature of this complex syndrome.