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Case Reports: Rare disease
Rare paediatric case of agenesis of the vermiform appendix, ileal duplication and sickle cell disease
  1. Nadia Laezza1,
  2. Nuno Gião2,
  3. Cristina Borges3 and
  4. Maria Knoblich3
  1. 1Department of Pediatric Surgery, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal
  2. 2Pathological Anatomy Department, Hospital de São José, Centro Hospitalar de Lisboa Central EPE, Lisboa, Portugal
  3. 3Department of Pediatric Surgery, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central EPE, Lisboa, Portugal
  1. Correspondence to Dr Nadia Laezza; 11189{at}chuc.min-saude.pt

Abstract

This study reports an exceptional case of a 14-year-old girl with sickle cell disease that was diagnosed with agenesis of the vermiform appendix and ileal duplication. Both consist of extremely rare gastrointestinal malformations whose association has never been described. The preadolescent girl presented with abdominal pain and vomiting, and the ultrasound was suggestive of acute appendicitis. Surgical findings were agenesis of the vermiform appendix and a T-shaped ileal malformation with inflammatory changes. The patient underwent resection and ileal end-to-end anastomosis. Histopathological evaluation identified an ileal duplication, with small bowel and colonic mucosa, no communication to the adjacent ileum and ischaemic changes. At 8-month follow-up, the patient was asymptomatic.

  • Congenital disorders
  • Gastrointestinal surgery
  • Haematology (incl blood transfusion)
  • Paediatric Surgery

https://doi.org/10.1136/bcr-2021-248181

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    Footnotes

    • Contributors NL: bibliographical search, data collection, analysis, writing the article. NG: bibliographical search, data collection, histopathological image preparation and analysis, reviewing the article. CB: bibliographical search, critical reviewing of the content of the article. MK: bibliographical search, critical reviewing of the content of the article.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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