Colonic atresia and anorectal malformation in a haitian patient: A case study of rare diseases

Max Herby Derenoncourt, Gerard Baltazar, Tamar Lubell, Alice Ruscica, Cyril Sayhoun, Francisca Velcek

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Introduction Colonic atresia and anorectal malformation are rare congenital anomalies individually. Few reports of the conditions combined in a single patient have been published in the literature. Neither colonic atresia, anorectal malformation or a combination of the disorders has previously been reported in the Haitian population. Case presentation A 5-day-old female presented with feculent emesis, failure to pass stool since birth and an imperforate and stenotic anus. Exploratory laparotomy revealed colorectal atresia distal to a malformed cecum and a Wingspread low subtype anorectal malformation without any associated urogenital fistulae. Temporizing percutaneous ileal drainage was followed by second-stage anal perforation and dilation, ileal J-pouch and pull through. Discussion This is the first reported case of colonic atresia, anorectal malformation or the combination of the disorders among the Haitian population and one of only a handful of such cases reported worldwide. Although vascular accidents in utero have been implicated as the etiology of colonic atresia, simultaneous presence of anorectal malformation suggests a multifactorial cause. Investigation for multisystem abnormalities is warranted. Two-staged operative correction is considered the best treatment; however, long-term postoperative outcomes are uncertain. Conclusion The coexistence of colonic atresia and anorectal malformation is a very rare occurrence and presents unique clinical and operative challenges. Investigation for additional congenital abnormalities is appropriate, and although two-stage operative correction is considered the best treatment, long-term outcomes are uncertain.

Original languageEnglish
Article number203
JournalSpringerPlus
Volume3
Issue number1
DOIs
StatePublished - 2014
Externally publishedYes

Keywords

  • Anorectal malformation
  • Colonic atresia
  • Intestinal atresia
  • Wingspread classification

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