Beyond the Womb: Unexpected Postnatal Presentation of Prune Belly Syndrome

Prune belly syndrome (PBS) is a rare congenital disorder characterized by a spectrum of symptoms, with most cases presenting a consistent triad: abdominal wall musculature deficiency, cryptorchidism, and urinary tract abnormalities. Aplasia or hypoplasia of the abdominal wall muscles generally has a thin, wrinkled skin or “prune-like” appearance. Aside from the pathognomonic triad, the presentation of PBS often varies and coexists with other associated anomalies involving the musculoskeletal, gastrointestinal, and cardiopulmonary systems. The exact etiology of PBS remains unknown. The condition primarily affects male infants, occurring in approximately 3.6 to 3.8 per 100,000 live male births and 1.1 per 100,000 in females. The detection of PBS features has appeared on ultrasound as early as 10-13 weeks of gestation primarily due to obstruction or stricture of the urinary tract. However, early findings of PBS on ultrasound were associated with very poor prognosis including intrauterine fetal demise. Therefore, establishing the diagnosis of PBS antenatally plays an essential role so physicians can provide expectant parents with appropriate management strategies and adequate counseling and support. This case report details the prenatal course of a 33-year-old primigravida woman at 27 weeks and 3 days of gestation who underwent a primary cesarean delivery of a nonviable male infant due to failure to progress following induction of labor. Past medical history is significant for type 2 diabetes mellitus managed with metformin and insulin glargine, exogenous obesity, and attention-deficit/hyperactive disorder (ADHD). Based on the characteristic findings on clinical examination, PBS was suspected to be the most likely diagnosis. An ultrasound performed at 20 weeks of gestation revealed fetal malformations, including the absence of structures below the diaphragm and a large fluid-filled structure thought to be separate from the fetus. Initially, these findings were suspected to be consistent with amniotic band syndrome resulting in a limb body wall complex. Follow-up ultrasonography confirmed the previous observations and indicated that the fetus would not be viable. At delivery, the nonviable fetus exhibited significant abdominal ascites, the absence of abdominal musculature, and a two-vessel umbilical cord, which was normal in length. A histopathology examination of the placenta revealed hydrops placentalis without any infectious etiology. Notably, the placental weight and size were greater than the 95th percentile for the gestational age of 27 weeks. Chromosomal microarray analysis demonstrated normal results. Unfortunately, an autopsy was not performed due to financial constraints, including the additional costs associated with transportation to an autopsy facility. Despite appropriate prenatal care, ultrasound evaluation failed to accurately diagnose PBS in this case, underscoring the importance of provider discretion when interpreting ultrasound imaging. This report further explores the obstetrical care provided to the patient, her associated health conditions, and the prenatal screening procedures undertaken. By presenting this case, we aim to enhance awareness and diagnostic accuracy of PBS, aiding physicians in the timely identification and management of this condition.