prune belly sequence

Prune belly syndrome or sequence (PBS) is a triad consisting of abdominal musculature hypoplasia, urinary tract malformations, and cryptorchidism. It is frequently associated with other congenital malformations.

The etiology, however, remains uncertain. Theories of mesenchymal maldevelopment, obstruction, and genetic origin have been proposed.

Synopsis

 megacystis
 urinary tract defects
 abdominal muscle deficiency (abdominal wall hypoplasia)
 cryptorchidism

Etiology

 obstructive form (urethral obstruction sequence)

• urethral atresia (urethral agenesis)
• posterior urethral valves
• meconial urethral obstruction

 non-obstructive form

• urinary bladder abnormal innervation
• visceral myopathy
  • megacystis-microcolon-hypoperistalsis syndrome (MMIH syndrome) (MIM.249210)

Association

 pulmonic stenosis, mental retardation, and deafness (MIM.264140)
 digestive anomalies (3537997)

• gastrointestinal malrotation
• mesenteric anomalies
• severe malformations of midgut and hindgut
• distal digestive stenoses
• distal digestive atresias
• postnatal volvulus
• higher risk for persistence of the common fetal cloaca

See also

 urethral obstruction sequence (UOS)

References

 Volmar KE, Fritsch MK, Perlman EJ, Hutchins GM. Patterns of congenital lower urinary tract obstructive uropathy: relation to abnormal prostate and bladder development and the prune belly syndrome. Pediatr Dev Pathol. 2001 Sep-Oct;4(5):467-72. PMID: 11779049

 Poucell-Hatton S, Huang M, Bannykh S, Benirschke K, Masliah E. Fetal obstructive uropathy: patterns of renal pathology. Pediatr Dev Pathol. 2000 May-Jun;3(3):223-31. PMID: 10742409

 Popek EJ, Tyson RW, Miller GJ, Caldwell SA. Prostate development in prune belly syndrome (PBS) and posterior urethral valves (PUV): etiology of PBS—lower urinary tract obstruction or primary mesenchymal defect? Pediatr Pathol. 1991 Jan-Feb;11(1):1-29. PMID: 2014185

 Manivel JC, Pettinato G, Reinberg Y, Gonzalez R, Burke B, Dehner LP. Prune belly syndrome: clinicopathologic study of 29 cases. Pediatr Pathol. 1989;9(6):691-711. PMID: 2602227

 Wright JR Jr, Barth RF, Neff JC, Poe ET, Sucheston ME, Stempel LE. Gastrointestinal malformations associated with prune belly syndrome: three cases and a review of the literature. Pediatr Pathol. 1986;5(3-4):421-48. PMID: 3537997