Clinical characteristics of osteopetrosis in 4 children / 中南大学学报(医学版)

ABSTRACT

Four boys (2 months to 8 years old) were diagnosed with autosomal recessive form of osteopetrosis. Symptoms manifested in the first few months of life in 3 patients, and there was family history in 1. Primary symptoms included anemia, thrombocytopenia, hepatosplenomegaly, failure to thrive, recurrent infectious history and macrocephaly. The typical radiological images on plain radiogram were diffuse sclerosis, bone modelling defects at the metaphyses of long bones, "bone-in-bone" appearance, and "sandwich" vertebrae. Bone marrow biopsy showed markedly reduced platelets. Osteopetrosis refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. Diffuse sclerosis leads to crowding of the bone marrow, resulting in anemia and extramedullary hemopoiesis. Hematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and offers the best chance of longer-term survival.