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Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Velu Nair1*, Satyaranjan Das1, Ajay Sharma1, Sanjeevan Sharma1, Jasmeet Kaur2 and DK Mishra3

Author Affiliations

1 Department of Haematology & Bone Marrow Transplantation, Army Hospital (Research & Referral), Delhi Cantt-110010, India

2 Department of Microbiology, Army Hospital (Research & Referral), Delhi Cantt-110010, India

3 Department of Pathology, Army Hospital (Research & Referral), Delhi Cantt-110010, India

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Journal of Medical Case Reports 2011, 5:216  doi:10.1186/1752-1947-5-216

Published: 4 June 2011

Abstract

Introduction

Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare. Allogeneic hematopoietic stem cell transplantation is a well-established therapy for Diamond-Blackfan anemia. However, in patients with Duchenne muscular dystrophy, stem cell therapy still remains experimental.

Case presentation

We report the case of a nine-year-old boy of north Indian descent with Diamond-Blackfan anemia and Duchenne muscular dystrophy who underwent successful allogeneic hematopoietic stem cell transplantation. He is transfusion-independent, and his Duchenne muscular dystrophy has shown no clinical deterioration over the past 45 months. His creatine phosphokinase levels have significantly decreased to 300 U/L from 14,000 U/L pre-transplant. The patient is 100% donor chimera in the hematopoietic system, and his muscle tissue has shown 8% to 10.4% cells of donor origin.

Conclusion

Our patient's Diamond-Blackfan anemia was cured by allogeneic hematopoietic stem cell transplantation. The interesting clinical observation of a possible benefit in Duchenne muscular dystrophy cannot be ruled out. However, further clinical follow-up with serial muscle biopsies and molecular studies are needed to establish this finding.