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Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation

Bone Marrow Transplantation volume 26, pages 219–224 (2000)Cite this article

Abstract

Malignant autosomal recessive (AR) osteopetrosis represents an absolute indication for bone marrow transplantation (BMT). Over the last 15 years, almost 100 BMTs for osteopetrosis have been reported. The median age at transplant of most patients is 4 months. Very few cases of mild AR osteopetrosis have been described. Here, we report the good outcome of two cases of mild AR osteopetrosis with a follow-up of 5 and 6 years, respectively, after an HLA-identical sibling transplant undergone at 5 and 12 years of age, respectively. At the time of BMT, severe visual impairment was present in both children. Bone biopsy demonstrated hypermineralization with virtual obliteration of the medullary spaces, rare microfoci of hematopoiesis and marked deficiency in osteoclastic activity. Successful engraftment was complicated by hypercalcemia, controlled by a combination of bisphosphonate, phosphate infusions, vigorous hydration and calcitonin. Following BMT, radiological and histological findings showed extensive bone resorption with marked augmentation of the osteoclasts in normalized marrow. No improvement was observed in visual acuity, despite complete remodeling of skeletal abnormalities. We conclude that allogeneic BMT is the only chance of curing mild AR osteopetrosis. Bone Marrow Transplantation (2000) 26, 219–224.

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Acknowledgements

This study was supported in part by Istituto G Gaslini, contract 9307002F, by Centro Nazionale delle Ricerche (CNR), contract ACRO 92.02315. PF39, by Associazione Italiana Ricerca sul Cancro (AIRC), Milano, Italy and by Associazione Italiana contro le Leucemie (AIL). We thank Anna Capurro for her assistance in the preparation of this manuscript and Brunella Sciaccaluga for technical assistance.

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Authors and Affiliations

  1. Department of Pediatric Hematology, Oncology and Bone Marrow Transplant, G Gaslini Children's Hospital, Genova, Italy

    G Dini, M Faraci, L Manfredini, S Dallorso, E Lanino & G Morreale

  2. Chair of Genetics, University of Cagliari, Italy

    R Floris

  3. Division of Radiology, G Gaslini Children's Hospital, Genova, Italy

    A Garaventa & M Oddone

  4. Department of Legal Medicine, University of Genova, Italy

    F De Stefano

  5. Division of Ophthalmology, G Gaslini Children's Hospital, Genova, Italy

    R De Marco

  6. Division of Odontoiatric, G Gaslini Children's Hospital, Genova, Italy

    E Calcagno

  7. Division of Nuclear Medicine, Sampierdarena Hospital, Genova, Italy

    F Claudiani

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  1. G Dini
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  2. R Floris
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  3. A Garaventa
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  4. M Oddone
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  5. F De Stefano
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  8. M Faraci
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  10. L Manfredini
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  11. S Dallorso
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Dini, G., Floris, R., Garaventa, A. et al. Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation. Bone Marrow Transplant 26, 219–224 (2000). https://doi.org/10.1038/sj.bmt.1702491

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  • DOI: https://doi.org/10.1038/sj.bmt.1702491

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