Osteopetrosis in five children

Purpose of the study The purpose of this study was to analyse 5 cases of os teopetrosis: 2 dominant and 3 recessive forms. Material and methods Among five cases of children suffering from osteopetro sis. There were three malignant and two benign forms. Three children affect ed 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 pe riodically followed for iterative fractures and did not present serious com plications. Discussion Our analysis compared to literature review allows us to insist o n bone marrow transplantation. This is the only possibility for these child ren who were condemned in the past. The frequency of iterative fractures on children presenting a dominant form necessitates medical and orthopedic fo llow-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 a n anormaly of osteoclasts action. Two main forms exist: the dominant form w hich is benign, and the recessive form which is malignant. Actually recessi ve forms can be treated and cured by bone marrow transplantation and the ch ildren who were in the past condamned are saved. Children with dominant for m must be followed up by an orthopaedic surgeon because of bone weakness. T he increase in number of cases detected in immigrant populations with a hig h rate of consanguineous marriages led us to present this study.