Publication: A Case of Colo-Colic Intussusception Revealing a Constitutional Mismatch Repair Deficiency Authors
Date
2025
Journal Title
Journal ISSN
Volume Title
Publisher
Perinatal Society of Nepal (PESON)
Abstract
Abstract:
A 15-year-old boy presented with asthenia, dyspnea, and dizziness. On examination, he had many café-au-lait spots. The blood tests revealed an iron deficiency anemia at 28 g/l. A CT scan demonstrated a right colo-colonic intussusception. A laparoscopic right hemicolectomy was performed. Histology confirmed the existence of a colonic adenocarcinoma in situ and several other polyps as part of a Constitutional Mismatch Repair Deficiency Syndrome.
Description
Ludovic Mansuy
Consultant, Paediatric Oncology Department, Nancy Regional University Hospital Center: Children’s Hospital Center, Vandoeuvre-LesNancy, Fr
https://orcid.org/0000-0002-7349-3104
Christelle Destinval
Consultant, Paediatric Surgery Department, Nancy Regional University Hospital, Vandoeuvre-Les-Nancy, France
Jean-Louis Lemelle
Professor, Paediatric Surgery Department, Nancy Regional University Hospital, Vandoeuvre-Les-Nancy, France
https://orcid.org/0000-0001-6438-2448
Pascal Chastagner
Professor, Paediatric Oncology Department,Nancy Regional University Hospital Center: Children’s Hospital Center Vandoeuvre-Les-Nancy, France
https://orcid.org/0000-0002-9134-5797
Keywords
Intussusception, Colorectal Adenocarcinoma, Constitutional Mismatch Repair Deficiency Syndrome, Child