Haematopoietic stem cell transplant in a case of mucopolysaccharidosis IV with Fanconi anaemia and bone marrow failure.

Authors

Swetlana Mukherjee, Garima Nirmal, Vaibhav Chadha, Nikhil Gupta, Eby Baby, Shruti Verma, Gaurav Kharya

Published in

BMJ case reports. Volume 19. Issue 9. Sep 11, 2026. Epub Sep 11, 2026.

Abstract

Mucopolysaccharidosis type IV (MPS IV; Morquio syndrome) is a rare lysosomal storage disorder characterised by skeletal dysplasia and multisystem involvement, while Fanconi anaemia (FA) is an inherited bone marrow failure syndrome associated with chromosomal instability and hypersensitivity to conditioning agents. The coexistence of these two disorders poses a unique therapeutic challenge, particularly when haematopoietic stem cell transplantation (HSCT) is indicated. We report a child with MPS IV and FA who underwent HSCT with a non-myeloablative conditioning regimen. The procedure was carefully individualised to balance engraftment success with minimisation of toxicity. This case highlights the complexities of managing overlapping genetic conditions requiring HSCT and demonstrates the value of multidisciplinary planning and personalised transplant strategies in achieving favourable clinical outcomes.

PMID:
42728074
Bibliographic data and abstract were imported from PubMed on 12 Sep 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.