PEDIATRICS Vol. 90 No. 6 December 1992, pp. 986-989
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Longitudinal Follow-up of Malignant Osteopetrosis by Skeletal Radiographs and Restriction Fragment Length Polymorphism Analysis After Bone Marrow Transplantation

ROBERT E. SCHROEDER MD1, F. LEONARD JOHNSON MD2, MICHAEL J. SILBERSTEIN MD3, WILMA L. NEUMAN PHD4, JEANNE M. HOAG MD2, ROSANN A. FARBER PHD5, and AKIHIKO NOGUCHI MD1

1 Dept of Pediatrics, St. Louis University, School of Medicine, St. Louis, Missouri
2 Dept of Pediatrics, University of Chicago Medical Center, Chicago, Illinois
3 Dept of Radiology, St. Louis University, School of Medicine, St. Louis, Missouri
4 Dept of Medicine, University of Chicago Medical Center, Chicago, Illinois
5 Dept of Pathology, University of North Carolina, School of Medicine, Chapel Hill, North Carolina

Infantile malignant osteopetrosis is a rare autosomal recessive disorder characterized by presentation in the first months of life with manifestations related to an underlying defect in osteoclast function. Abnormal osteoclast activity paired with normal bone formation by osteoblasts leads to development of densely sclerotic fragile bones. Encroachment on the marrow cavities by hyperostotic bone results in profound anemia and thrombocytopenia, with extramedullary ullary hematopoiesis and hypersplenism. Deficits in immune function can lead to presentation with overwhelming sepsis in the newborn period. Narrowing of the optic and auditory foramina can lead to progressive blindness and hearing loss. Until recently, the prognosis for this disorder had been uniformly dismal with death usually occurring within a few months.l-3

Submitted on January 13, 1992
Accepted on May 26, 1992




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