Outcome of Children With Intestinal Failure Due to Waardenburg Syndrome From an Intestinal Transplant Center: A Case Series

Appak Y. C., Tinastepe T., AKSOY B., Turhan S., Tugmen C., Sert I., ...More

EXPERIMENTAL AND CLINICAL TRANSPLANTATION, vol.23, no.7, pp.506-508, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 7
  • Publication Date: 2025
  • Doi Number: 10.6002/ect.2020.0166
  • Journal Name: EXPERIMENTAL AND CLINICAL TRANSPLANTATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.506-508
  • Keywords: Intestinal rehabilitation, Shah-Waardenburg syndrome, Small bowel transplant
  • Dokuz Eylül University Affiliated: No

Abstract

Waardenburg syndrome is a genetic disease char-acterized by hearing loss and pigmentation abnor-malities. Waardenburg syndrome type 4 is very rare, and children with Waardenburg syndrome type 4 present with intestinal aganglionosis. The associated findings and severity of Waardenburg syndrome type 4 may also differ significantly between cases. Intestinal insufficiency is probable and creates difficulties in terms of treatment; intestinal transplant may be required. In this case report, we present 4 cases of patients with Waardenburg syndrome who have intestinal issues, 2 of whom underwent small bowel transplant. Appropriate surgical and nutritional management should be provided for patients with Waardenburg syndrome type 4 who have gastro-intestinal manifestations.