title: [Clinical characteristics of osteopetrosis in 4 children].
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.
authors: Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China.
authors: Xiaolu
authors: X
authors: Deng
authors: Fei
authors: F
authors: Yin
authors: Yan
authors: Y
authors: Yu
authors: Jing
authors: J
authors: Peng
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010022:Osteopetrosis / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography