Recurrent fetal polycystic kidneys associated with glutaric aciduria type II

A woman had two pregnancies terminated in the 20th and 21st weeks of gestation after ultrasonographic detection of enlarged hyperechoic kidneys in both 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 deficiency is an autosomal recessively inherited defect of mitochondrial energy metabolism, which usually results in neonatal death. When pregnancy is terminated because of enlarged hyperechoic kidneys in the fetus, autopsy is crucial for establishing the correct diagnosis. The combination of polycystic kidneys and steatotic liver should bring GA II to mind, and prompt appropriate biochemical investigations so that genetic counselling and first trimester diagnosis can be offered in future pregnancies.