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Oesophageal atresia with tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease: outcome of a rare phenotype
  1. Liliana Pimenta Santos1,
  2. Diana Coimbra1,
  3. Catarina Cunha1 and
  4. Maria Francelina Lopes1,2
  1. 1 Department of Paediatric Surgery, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal
  2. 2 Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  1. Correspondence to Dr Liliana Pimenta Santos, lilianapimentasantos{at}


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.

  • congenital disorders
  • neonatal and paediatric intensive care
  • paediatric surgery

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  • Contributors LPS was the primary writer for the case report. LPS and DC draft the manuscript. CC and MFL were the consultant surgeons operating on the patient. MFL critically reviewed and finalised the report. All the above authors were involved in the review and approval of the final version of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Parental/guardian consent obtained.

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