Prune belly syndrome

Lore & Background

Prune belly syndrome presents with a triad of signs: partial or complete lack of abdominal wall muscles, often with wrinkly skin folds; cryptorchidism (undescended testicles) in males; and urinary tract abnormalities such as unusually large ureters, distended bladder, and vesicoureteral reflux. Other signs include frequent urinary tract infections, ventricular septal defect, malrotation of the gut, club foot, and post-ejaculatory discomfort later in life. Musculoskeletal abnormalities such as pectus excavatum, scoliosis, and congenital joint dislocations are common, necessitating a thorough orthopaedic evaluation. Pulmonary hypoplasia, pneumonia, and atelectasis may also occur.

Reader's Guide

Prune belly syndrome is significant as a rare congenital disorder that primarily affects males and involves a characteristic triad of symptoms impacting the urinary system and abdominal wall. Diagnosis can occur in-utero via ultrasound, with indicators such as urinary tract dilation, bladder outlet obstruction, and deficient abdominal wall musculature. In young children, frequent urinary tract infections often herald the condition. Treatment depends on severity and may include vesicostomy, self-catheterization, or surgical remodeling of the abdominal wall and urinary tract. Boys often require orchiopexy to move testes into the scrotum. Complications can include kidney failure requiring dialysis or transplant. The syndrome's genetic basis is suggested by autosomal recessive inheritance in some cases, with a homozygous mutation in the CHRM3 gene reported in one family. Its legacy lies in highlighting the interplay between urinary and musculoskeletal development and the need for multidisciplinary care.

Did You Know?

• About 97% of those affected by prune belly syndrome are male.
• The syndrome is named for the mass of wrinkled skin often present on the abdomen.
• A homozygous mutation in the CHRM3 gene on chromosome 1q43 was reported in one family.
• Later in life, a common symptom is post-ejaculatory discomfort, likely a bladder spasm lasting about two hours.