Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant

J Pediatr Surg. 2010 Nov;45(11):e39-42. doi: 10.1016/j.jpedsurg.2010.07.054.

Abstract

Prune belly syndrome (PBS), megacystis-microcolon-intestinal hypoperistalsis (MMIH), and omphalocele-exstrophy of the bladder-imperforate anus-spine abnormalities complex (OEIS) are rare congenital malformations of the newborn that lead to incomplete formation of the gastrointestinal and genitourinary tract systems. To date, incomplete mesodermal development is identified as the cause for all these complex genetic syndromes even if the etiology is still unknown. We present an original case sharing characteristics common to PBS, MMIH, and OEIS complex, without a clear inclination toward any particular one. This case hints toward a common pathway in the creation of the 3 syndromes. We hypothesize that they are a spectrum of malformations based on the time frame when the mesoderm fails to create a normal interaction between infraumbilical mesoderm, urorectal septum, lumbosacral somites in the formation of the abdominal wall and the genitourinary and lower gastrointestinal tracts.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / surgery
  • Cloaca / abnormalities*
  • Diagnosis, Differential
  • Digestive System Surgical Procedures / methods
  • Female
  • Follow-Up Studies
  • Gynecologic Surgical Procedures / methods
  • Hernia, Umbilical / diagnosis*
  • Hernia, Umbilical / surgery
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Plastic Surgery Procedures / methods
  • Prune Belly Syndrome / diagnosis*
  • Prune Belly Syndrome / surgery
  • Urachus / abnormalities*
  • Urography