Email updates

Keep up to date with the latest news and content from Journal of Medical Case Reports and BioMed Central.

Open Access Highly Accessed Case report

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

For all author emails, please log on.

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.