Oesophageal atresia with tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease: outcome of a rare phenotype

Abstract

Oesophageal atresia with or without tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease are surgical malformations of the gastrointestinal tract typically diagnosed early in the neonatal period and varying in severity and prognosis. This report describes a full-term male newborn presenting simultaneous oesophageal atresia with distal tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease. In addition to the complex types of gastrointestinal malformations involved, the combination of ileal atresia and Hirschsprung’s disease, as well as ganglion cells distal to intestinal atresia, resulted in a challenging diagnosis. Despite a successful outcome, the patient presented increased morbidity and prolonged hospitalisation. We highlight some important findings that may aid the early diagnosis of Hirschsprung’s disease in this clinical setting. To our knowledge, the association of oesophageal atresia/tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease has not been previously reported.

Achieving Digestive Autonomy and Gastrointestinal Continuity in a Patient with Short Bowel Syndrome Secondary to Concomitant Jejunal Atresia and Small Intestinal Hirschsprung's Disease

“…Ileal atresia and Hirschsprung disease are relatively common causes of neonatal obstruction however concomitant occurrence of both is rare with few reported cases. 4,[9][10][11][12][13] While the exact etiology is unknown, it is believed that the vascular insult within the 6 th to 8 th week of life that is presumed to cause ileal atresia could also interrupt the caudal migration of neural crest cells/ganglion cells resulting in both total colonic and small intestinal aganglionosis distal to the site of atresia. 13 It's critical to recognize these cases because an unrecognized distal obstruction threatens any anastomosis made during the treatment of jejunal atresia.…”

“…1,2 Jejunal-ileal atresia is another common cause of neonatal bowel obstruction, thought to be caused by intrauterine vascular compromise. 3 Simultaneous occurrence of both is extremely rare [4][5][6] placing these children at high risk for short bowel syndrome (SBS) and its associated complications. 7,8 With this rare combination, the short bowel syndrome can affect the possibility and the timing of a pull-through.…”

Case Report: Jejunoileal Atresia With Persistent Poor Bowel Function Can Occur After Surgical Correction for Hirschsprung Disease

“…Perinatal history of feeding intolerance, onset of abdominal distension, bilious or non-bilious vomitus, and failure to pass meconium are usually the first signs after birth that might indicate intestinal obstruction. The diagnosis is then made with radiological studies, including abdominal plain radiography, small bowel meal/follow-through and barium enema examinations ( 1 , 3 , 6 ). Other studies such as echocardiography, renal ultrasound, and rectal biopsy may be needed to rule out other concomitant malformations and associated diseases ( 1 ).…”

“…Intestinal obstruction due to ileal and jejunal atresia, described together as jejunoileal atresia (JIA), is one of the common etiologies of intestinal obtrusion in neonates ( 1 ). The incidence of intestinal obtrusion ranges from 1 in 5,000 to 1 in 14,000 live births, and occurs equally in men and women ( 1 – 3 ). Additionally, JIA is associated with other concomitant malformations, such as cardiac anomalies, gastroschisis, cystic fibrosis, and other conditions ( 1 , 4 , 5 ).…”