Osteopetrosis in five children

Purpose of the study The purpose of this study was to analyse 5 cases of osteopetrosis: 2 dominant and 3 recessive forms. Material and methods Among five cases of children suffering from osteopetrosis. There were three malignant and two benign forms. Three children affected by malignant form, received a bone marrow transplantation. Results Only one child who received a bone marrow transplantation was still alive and cured (one died due to transplantation complications, the other child died accidentally). The two children presenting a benign form were periodically followed for iterative fractures and did not present serious complications. Discussion Our analysis compared to literature review allows us to insist on bone marrow transplantation. This is the only possibility for these children who were condemned in the past. The frequency of iterative fractures on children presenting a dominant form necessitates medical and orthopedic follow-up. Narrowness of the medullary canal, bone fragility contra indicates intramedullary nailing when fixation is indicated. Conclusion Osteopetrosis is an autosomal metabolic bone disease caused by an anormaly of osteoclasts action. Two main forms exist: the dominant form which is benign, and the recessive form which is malignant. Actually recessive forms can be treated and cured by bone marrow transplantation and the children who were in the past condamned are saved. Children with dominant form must be followed up by an orthopaedic surgeon because of bone weakness. The increase in number of cases detected in immigrant populations with a high rate of consanguineous marriages led us to present this study.