Gastroschisis, ileal atresia, and Hirschsprung's disease in a newborn: The first reported case

Goslin, Brent; Brown, Alex E.; Robertson, Daniel J.

doi:10.1016/j.jpedsurg.2012.09.040

Cited by 5 publications

(6 citation statements)

References 11 publications

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“…Unlike oesophageal atresia and intestinal atresia, which are commonly recognised soon after birth, studies suggest that the diagnosis of Hirschsprung’s disease coexisting with ileal atresia is usually late and, in cases of unrecognised aganglionosis at the time of atresia repair, there is a significant risk of anastomotic dehiscence 4 6 13 14. Our result is consistent with these studies, in which belated recognition of Hirschsprung’s disease occurred.…”

Section: Discussionsupporting

confidence: 90%

“…Our result is consistent with these studies, in which belated recognition of Hirschsprung’s disease occurred. Likewise, the diagnostic delay negatively affected the outcome 4 6 13 14. In our case some findings may explain this delay, namely a false negative diagnosis for Hirschsprung’s disease that was initially supported by the presence of ganglion cells in the distal ileum and appendix.…”

Section: Discussionmentioning

confidence: 64%

“…At this time there are approximately 25 cases of ileal atresia associated with Hirschsprung’s disease4–9 and one case of an oesophageal abnormality associated with Hirschsprung’s disease10 reported in the literature. However, as far as we know, there are no reports of oesophageal anomalies associated with Hirschsprung’s disease and/or ileal atresia.…”

Section: Introductionmentioning

confidence: 99%

“…These patients are candidates for corrective surgeries. However, the association of gastrointestinal malformations carries an increased risk for postoperative morbidity6 and even mortality of the child, especially in cases of an unidentified phenotype combined with atypical findings.…”

Section: Introductionmentioning

confidence: 99%

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

Santos¹,

Coimbra

Cunha

et al. 2019

BMJ Case Rep

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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.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 64%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Santos¹,

Coimbra

Cunha

et al. 2019

BMJ Case Rep

View full text Add to dashboard Cite

show abstract

“…Ayrıca ileal atrezi ve hirschsprung hastalığı (78) , inmemiş testis (79) ve bir yıllık takip döneminde gastro özofageal reflü ile birliktelik bildirilmiştir (80) .…”

Section: Gastroşi̇zi̇sunclassified