Recurrent fetal polycystic kidneys associated with glutaric aciduria type II

A woman had two pregnancies terminated in the 20th and 21st weeks of gestat ion after ultrasonographic detection of enlarged hyperechoic kidneys in bot h fetuses. The combination of polycystic kidneys and steatotic liver found at autopsy suggested glutaric aciduria type II (GA II), which was confirmed by biochemical investigation. GA II or multiple acyl-CoA dehydrogenase def iciency is an autosomal recessively inherited defect of mitochondrial energ y metabolism, which usually results in neonatal death. When pregnancy is te rminated because of enlarged hyperechoic kidneys in the fetus, autopsy is c rucial for establishing the correct diagnosis. The combination of polycysti c kidneys and steatotic liver should bring GA II to mind, and prompt approp riate biochemical investigations so that genetic counselling and first trim ester diagnosis can be offered in future pregnancies.