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Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection., (Copyright © 2013. Published by Elsevier B.V.)

Patients with severe prune belly syndrome rarely survive beyond the first days of life. We present a case of prune belly syndrome that initially presented with severe oligohydramnios, megacystis and associated poor urine biochemistries. Due to an anteriorly located placenta the patient was referred to three major centers, but was turned down because of the unfavorable prognostic findings. Therefore, fetal intervention was performed with 32 vesicocentesis and amnioinfusion procedures. Despite the unfavorable prenatal findings, and having undergone numerous fetal interventions, the birth resulted in a viable infant.

Prune belly syndrome was diagnosed early in the antenatal period. Renal function was evaluated on the basis of bladder puncture results performed at 18 weeks gestation due to urethral atresia, suggesting a possible pathogenesis mechanism. Recent pathogenic data and the relationship with antenatal diagnosis are discussed.