[Early manifestation of polycystic kidney changes in tuberous sclerosis]

Tuberous sclerosis (McKusick number: 19110) is well documented as an inheritable autosomal dominant disorder. On the occasion of results of an autopsy of a male fetus (1950 g, 29th gestational week) we report on the very early onset of a giant cell astrocytoma (microcalzified focally) and a cystic kidney disorder which in association with this phacomatosis is described first for this age. Thus, based on sonography there is a new differential diagnosis for the weighty prenatal diagnosis of a "Potter syndrome" or of "cystic kidneys". Moreover, on a chromosomal level we discuss possible connections between tuberous sclerosis and distinct forms of autosomal dominant polycystic kidney disease, ADPKD.