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

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.

Figure 1

Hematoxylin and eosin-stained section showing post-transplantation muscle biopsy. Image shows a cross-sectional view of muscle fibers of varying sizes that have predominantly peripheral nuclei with a few fibers displaying central nuclei and regenerative changes. There is scanty intervening stroma.

Figure 2

Hematoxylin and eosin-stained cryosections of serially cut biopsies of muscle tissue that was homogenized and washed with saline prior to extraction of tissue DNA. No evidence of mononuclear cell contamination of the muscle fibers was noted.

Figure 3

Microsatellite analysis of locus D21S11 in (a) donor peripheral blood sample showing peaks at allele 28 and 33.2, (b) recipient hair follicle representing patient pre-transplant DNA with allele 30 and 33.2, (c) recipient muscle biopsy sample on D+730 showing mixed chimerism with alleles 28, 30 and 33.2 and (d) recipient peripheral blood sample on D+730 showing complete donor chimerism.