Diagnosing prune belly syndrome antenatally: a case report

Dr Waleed H. Alkhamis at Department of Obstetrics and Gynecology, College of Medicine, King Saud University, King Khalid University Hospital, King Saud University Medical City, Riyadh City, Kingdom of Saudi Arabia and colleagues have reported a rare case of prune belly syndrome diagnosed antenatally. The case has appeared in the Journal of Medical Case Reports.

Prune belly syndrome is a rare congenital condition of uncertain aetiology.It is a syndrome, also known as Eagle-Barrett syndrome, and it is a rare disorder characterized by partial or complete absence of the stomach (abdominal) muscles, failure of both testes to descend into the scrotum (bilateral cryptorchidism), and/or urinary tract malformations. The urinary malformations may include abnormal widening (dilation) of the tubes that bring urine to the bladder (ureters), accumulation of urine in the ureters (hydroureter) and the kidneys (hydronephrosis), and/or backflow of urine from the bladder into the ureters (vesicoureteral reflux). Complications associated with Prune-Belly syndrome may include underdevelopment of the lungs (pulmonary hypoplasia) and/or chronic renal failure. The exact cause of Prune-Belly syndrome is not known.

It is characterized by a triad of abdominal distension due to the deficient abdominal wall, genitourinary tract anomalies, and musculoskeletal anomalies. This condition varies in its severity which makes diagnosis challenging during early antenatal scanning.

The authors reported a severe phenotype of prune belly syndrome which was not fully suspected in a 29-year-old Saudi woman was G4T2P0A1L2 at 21 weeks of gestation at the time of early antenatal presentation; however, it became apparent during diagnosis at a subsequent follow-up scan during advanced gestational age.

The authors concluded that suspicion of such anomalies through an early antenatal scan requires an urgent further follow-up scan in a tertiary center. The referral to the tertiary center must be to an experienced ultrasonographer and maternal-fetal medicine specialist for a decision to be made antenatally regarding the course of pregnancy and post-delivery management based on the severity of the condition.