Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant

Pediatr Blood Cancer. 2025 Feb;72(2):e31465. doi: 10.1002/pbc.31465. Epub 2024 Nov 30.

Abstract

Aplastic anemia, mental retardation, and dwarfism syndrome (AMeDS) is a rare inherited bone marrow failure syndrome. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only possible treatment option for hematological complications in AMeDS; however, there are no reports addressing allo-HSCT for AMeDS. A 6-year-old female diagnosed with AMeDS accompanying myelodysplastic syndrome with increased blast was successfully treated with cord blood transplantation followed by myeloablative conditioning (MAC). A novel ADH5 c.1101-3C>G variant detected in this patient was demonstrated to be a null variant causing several patterns of alternative splicing in ADH5 gene. MAC might be feasible and effective in AMeDS.

Keywords: ADH5; ALDH2; AMeD syndrome; MDS.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Aplastic / genetics
  • Anemia, Aplastic / therapy
  • Child
  • Cord Blood Stem Cell Transplantation* / methods
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Myeloablative Agonists / therapeutic use
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / therapy
  • Prognosis
  • Transplantation Conditioning* / methods

Substances

  • Myeloablative Agonists