A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT)

K Kavanagh; J Coleman; S M O'Connell; C Ní Fhoghlú; D P Moore; C Brenner; S A Lynch

doi:10.1002/ajmg.a.63603

A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT)

Am J Med Genet A. 2024 Mar 21:e63603. doi: 10.1002/ajmg.a.63603. Online ahead of print.

Authors

K Kavanagh¹, J Coleman¹, S M O'Connell¹, C Ní Fhoghlú¹, D P Moore¹, C Brenner¹, S A Lynch¹

Affiliation

¹ Children's Health Ireland at Crumlin, Dublin, Ireland.

PMID: 38511620
DOI: 10.1002/ajmg.a.63603

Abstract

There is an emerging body of evidence showing that young patients, post haematopoietic stem cell transplantation (HSCT), can develop skeletal changes that mimic an osteochondrodysplasia process. The key discriminator is that these children have had otherwise normal growth and skeletal development before the therapeutic intervention (HSCT), typically for a haematological malignancy. Herein we present that case of a boy who underwent HSCT for Haemophagocytic Lymphohistiocytosis (HLH) aged 2 years. Following Intervention with HSCT this boy's growth has severely decelerated (stature less than 1st centile matched for age) and he has developed a spondyloepiphyseal dysplasia.

Keywords: chondrodysplasia; growth failure; hematopoietic stem cell transplantation; phenocopy; skeletal dysplasia.

Publication types

Case Reports