Colonic atresia and anorectal malformation in a Haitian patient: a case study of rare diseases.
BACKGROUND
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.


METHODS
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.


CONCLUSIONS
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.


CONCLUSIONS
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.
Downstate Medical Center, State University of New York, Brooklyn, NY USA.
Max Herby
MH
Derenoncourt
Downstate Medical Center, State University of New York, Brooklyn, NY USA.
Gerard
G
Baltazar
Morgan Stanley Children's Hospital of New York, Columbia University Medical Center, New York, NY USA.
Tamar
T
Lubell
Morgan Stanley Children's Hospital of New York, Columbia University Medical Center, New York, NY USA.
Alice
A
Ruscica
Morgan Stanley Children's Hospital of New York, Columbia University Medical Center, New York, NY USA.
Cyril
C
Sahyoun
Downstate Medical Center, State University of New York, Brooklyn, NY USA.
Francisca
F
Velcek
Anorectal malformation; Colonic atresia; Intestinal atresia; Wingspread classification