Colonic atresia associated with imperforate anus in a patient with down syndrome, expect the unexpected

• Main Authors: Ahmed Alahmari, Jamila Al Maary
• Format: Article
• Language: English
• Published: Elsevier 2018-08-01
• Series: Journal of Pediatric Surgery Case Reports
• Online Access: http://www.sciencedirect.com/science/article/pii/S221357661830126X

We are describing an extremely rare clinical case of two congenital anomalies coexist simultaneously in a full term 18 months-old girl, known down syndrome with imperforate anus. She underwent PDA closure and divided diverting colostomy at the neonatal period. She had multiple history of pediatric intensive care unit (PICU) admissions due to recurrent bronchial asthma exacerbation and aspiration pneumonia. She presented to the Emergency Department at the age of 14 months with 4 days history of abdominal pain, biliouse emesis, urine retention and scant stoma out-put. On Physical examination, the proximal stoma was patent and functioning well after saline irrigation. Palpable non tender central abdominal mass was found. Radiological investigations revealed a markedly distended rectal pouch extending up to mid abdomen, hydrocolpus was excluded. Exploratory midline laparotomy showed colonic atresia at sigmoid distal to the mucus fistula which was not noticed before. Patient is still awaiting PSARP and closure of colostomy once her general condition improves.Imperforate anus associated with colonic atresia is an extremely rare anomaly with a very few number of cases had been reported in the literature. Being aware of such coexistence might minimize the need for a second laparotomy. Keywords: Imperforate anus, Colon atresia, Down syndrome