Prune Belly Syndrome
What are the features?
There are three cardinal features:
– Bilateral undescended testicles
– Dilated urinary tract
– Deficient abdominal wall musculature.
These manifestations place patients with prune belly syndrome at risk for testicular malignancy, infertility, urinary tract infections, and renal failure.
The Prune Belly syndrome is also known as:
– Eagle-Barrett syndrome
– Abdominal musculation syndrome
What is the incidence of PBS?
– PBS has a contemporary incidence of 3.6–3.8 per 100,000 live male births
– It is a predominantly male diagnosis as <5% of those diagnosed are female
What are the major manifestations of PBS, giving rise to its alternative name of the triad syndrome?
– A deficiency of abdominal musculature leading to a wrinkled “prune- like” appearance of the abdominal wall.
– Bilateral intra-abdominal testes.
– Urinary tract dysmorphism. The urinary tract anomalies are characterized by differing degrees of renal dysplasia, hydronephrosis, dilated tortuous ureters, an enlarged bladder and a dilated prostatic urethra.
What percentage of patients with PBS are female? What are the major manifestations of PBS in a female?
– Only 5% of PBS diagnoses are female.
– Females exhibit only deficiency of abdominal wall musculature and theanomalous urinary tract without any gonadal abnormality.
– 75% of children with PBS have non-urinary tract abnormalities
– These abnormalities include respiratory (58%, e.g. pulmonary hypoplasia), cardiac (25%, e.g. patent ductus arteriosus, atrial septal defect, ventricular septal defect, tetralogy of Fallot), gastrointestinal (63%, e.g. constipation, incomplete rotation of the midgut) and musculoskeletal anomalies (65%, e.g. talipes equinovarus, scoliosis, hip dysplasia)
What is the incidence of prematurity
The incidence of prematurity in the PBS population is nearly 50%.
What is the perinatal mortality of those born with PBS?
– Perinatal mortality ranges between 10 and 29% in contemporary studies.
– Perinatal mortality is directly connected to the level of prematurity and severity of pulmonary hypoplasia.
What is the most common urinary tract abnormality?
Hydroureteronephrosis is almost always present and most commonly bilateral.
– The distal ureter is usually where massive dilation occurs; however the presentation is variable.
– Hydroureteronephrosis is almost never due to obstruction within the ureter, rather, lower urinary tract obstruction (posterior urethral valves), vesicoureteral reflux, and a histologic deficiency of smooth muscle and preponderance of fibrous tissue in the ureters leading to ineffective peristalsis