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Case Reports
. 2022 Oct 1;44(7):419-420.
doi: 10.1097/MPH.0000000000002537. Epub 2022 Sep 2.

Successful Haploidentical Bone Marrow Transplantation of an Infant With a Novel Mutation in SAMD9L Gene (Ataxia-Pancytopenia Syndrome)

Minelys M Alicea Marrero  1 , María Español  1 , Gisela Marrero-Rivera  1 , Andrea Bauchat  2 , Valerie Cruz  3 , Lolie Yu  4 , Zachary LeBlanc  4
Affiliations
Case Reports

Successful Haploidentical Bone Marrow Transplantation of an Infant With a Novel Mutation in SAMD9L Gene (Ataxia-Pancytopenia Syndrome)

Minelys M Alicea Marrero et al. J Pediatr Hematol Oncol. .

Abstract

Data regarding the outcomes of hematopoietic stem cell transplant (HSCT) for the management of SAMD9L -associated ataxia-pancytopenia syndrome remains limited. We depict the case of a 2-month-old male with a novel mutation in the SAMD9L gene, presenting with respiratory failure, pancytopenia and severe developmental delay. He experienced graft failure 2 months after a 4/6 HLA-matched cord HSCT. At 9 months old, an unsuccessful unrelated donor search prompted a haploidentical HSCT with successful engraftment. He sustains excellent donor chimerism and has improved developmentally over 2 years posttransplant. This case demonstrates haploidentical HSCT as a viable option for patients with SAMD9L mutation and no acceptable unrelated donor.

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Conflict of interest statement

The authors declare no conflict of interest.

References

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Publication types

Supplementary concepts