Prune belly (Eagle-Barrett) syndrome clinical triad

• Abdominal wall deficiency
• Severe urinary tract abnormalities
• Bilateral cryptorchidism

Natural history

• 1 in ~ 30000 live births
• 95% boys
• Potential etiology - primary defect of lateral plate mesoderm

Clinical manifestations

• Kidneys - dysplasia in 50%
• Degree of dilation does not correlate with degree of renal dysplasia or obstruction
• Greatest risk to renal function is from infection, not obstruction
• 30% with impaired renal function at initial evaluation → ESRD
• Cr < 0.7 in childhood predictive of normal renal function later in life
• Ureters - typically dilated, tortuous, redundant
• Proximal ureter generally is less abnormal
• Distal ureter - normal smooth muscle replaced by connective tissue → stasis 2/2 ineffective peristalsis (actual obstruction is rare)
• VUR in 75%
• Bladder - massively enlarged, broad based
• Increased collagen:smooth muscle ratio
• Patent urachus in 25-30%; commonly haveurachal diverticulum
• Delayed 1st sensation, but normal compliance. Can have unbalanced voiding/ineffective emptying
• 50% void spontaneously with normal pressures, flow, and PVR
• Urethra
• Prostatic hypoplasia leads to dilated posterior urethra
• Also with atretic vas/seminal vesicles, retrograde ejaculation as bladder neck does not coapt
• 20% urethral atresia, valves, stenosis, diverticulums
• Urethral atresia lethal unless patent urachus
• Megalourethra
• Fusiform = deficient corpus cavernosum and spongiosum; entire phallus dilates with voiding
• Scaphoid = deficient spongiosum, ventral urethra dilates with voiding
• Testes
• Bilateral intraabdominal testes over the iliac vessels
• Spermatogonia still present (can do sperm retrieval) but are generally azoospermic/infertile
• Abdominal wall musculature hypoplasia
• Uneven distribution of muscle absence; inferior/medial segments most affected
• Most severe areas - single fibrous layer on peritoneum, plus skin and sub-q fat
• Other abnormalities - tetralogy of Fallot, pulmonary hypoplasia, midgut malrotation, anorectal malformations, etc

Prenatally resembles PUV (distended bladder, hydroureteronephrosis)

Postnatal workup

• BMP
• Cr < 0.7 in childhood predictive of normal renal function later in life
• CXR to rule out pulmonary manifestations
• VCUG if renal dysfunction (avoid if normal Cr and adequate drainage)

Wide spectrum of presentation

• Category I - extremely poor prognosis, most die in neonatal period
• Oligo, dysplasia, BOO, pulmonary hypoplasia, urethral atresia
• Supportive care, treat with catheter decompression only
• Category II (most patients) - moderate renal insufficiency, hydro, no pulmonary hypoplasia
• Early surgical reconstruction vs observation?
• Ureteral appearance can spontaneously improve with growth
• Category III (mild) - no renal insufficiency or pulmonary hypoplasia
• Follow with US?
• Incomplete (pseudoprune) - lack abdominal wall features but have uropathy and undescended testes
• Many still go on to renal failure
• Female - 40% neonatal mortality, 40% anorectal anomalies

Management

• Avoid UTI - circumcision, prophylactic abx
• Vesicostomy - use dome of bladder to prevent prolapse; wide stoma (stenosis is common)
• PADUA - sequential dilation of urethral atresia
• Ureteral reconstruction controversial - goal is to reduce stasis
• Testis - transabdominal orchidopexy
• Evaluate areas of abdominal wall weakness prior to port placement
• Abdominal wall reconstruction - cosmetic purposes, no benefit in pulm/GU/GI function