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

G. Dini, R. Floris, A. Garaventa, M. Oddone, F. De Stefano, R. De Marco, E. Calcagno, M. Faraci, F. Claudiani, L. Manfredini, S. Dallorso, E. Lanino, G. Morreale

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)219-224
Number of pages6
JournalBone Marrow Transplantation
Volume26
Issue number2
Publication statusPublished - 2000

Keywords

  • Bone marrow transplant
  • Osteopetrosis

ASJC Scopus subject areas

  • Hematology
  • Transplantation

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    Dini, G., Floris, R., Garaventa, A., Oddone, M., De Stefano, F., De Marco, R., Calcagno, E., Faraci, M., Claudiani, F., Manfredini, L., Dallorso, S., Lanino, E., & Morreale, G. (2000). Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation. Bone Marrow Transplantation, 26(2), 219-224.