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

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 ge...

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Bibliographic Details
Published in:Journal of pediatric surgery 2010-11, Vol.45 (11), p.e39-e42
Main Authors: Giuliani, Stefano, Vendryes, Christopher, Malhotra, Ajay, Shaul, Donald B, Anselmo, Dean M
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - surgery
Cloaca
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
Omphalocele
Pediatrics
Prune belly
Prune Belly Syndrome - diagnosis
Prune Belly Syndrome - surgery
Reconstructive Surgical Procedures - methods
Surgery
Urachus - abnormalities
Urography
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Summary: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.
ISSN:0022-3468
1531-5037
DOI:10.1016/j.jpedsurg.2010.07.054