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

Abstract

IntroductionColonic 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 presentationA 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.DiscussionThis 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.ConclusionThe 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.

Sigmoid Colon Atresia in a Female with Imperforate Anus without Vestibular Fistula

“…[4][5][6] ARM with CA is a very rare association, with only a few cases reported in literature. [2,3] In the index case, colonic atresia was associated with a very rare anorectal malformation in a female patient.…”

“…Only a few cases have been reported in literature. [1,2] Herein, we report a case of rare ARM associated with sigmoid colonic atresia.…”

High anorectal malformation with atresia of the ascending colon—An unusual association

“…Simultaneous coexistence of both anomalies is exceedingly rare and to the best of our knowledge, only 16 previous cases were reported in the English literature (Table 1). 2‐17 …”

“…1 Simultaneous coexistence of both anomalies is exceedingly rare and to the best of our knowledge, only 16 previous cases were reported in the English literature (Table 1). [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] A 2-day-old boy presented to our department with bilious emesis, abdominal distention, and refusal to feeding. On general examination, he was alert and conscious, and apart from the absence of the anal opening, there was no other obvious congeni-…”

Rare case report of anorectal malformation and intestinal atresia

“…Anorectal malformations (ARM) occur in approximately 1 in every 5000 live births while intestinal atresia (IA) incidence is estimated to range between 1.3 and 3.5 per 10,000 live births [ 1 ]. The simultaneous presence of both anomalies in one patient is particularly rare [ [2] , [3] , [4] , [5] , [6] , [7] , [8] ]. The prenatal diagnosis of IA or ARM is possible using ultrasound with a sensitivity of 50% and a specificity of 71% [ 9 ].…”