Deng Xiaolu, Yin Fei, Yu Yan, Peng Jing
Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2011 Jun;36(6):581-4. doi: 10.3969/j.issn.1672-7347.2011.06.018.
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.
4名男孩（年龄从2个月至8岁）被诊断患有常染色体隐性遗传型骨质石化症。3例患者在出生后的头几个月出现症状，1例有家族病史。主要症状包括贫血、血小板减少、肝脾肿大、发育不良、反复感染史和巨头畸形。X线平片上典型的影像学表现为弥漫性硬化、长骨干骺端骨塑形缺陷、“骨中骨”外观和“夹心”椎骨。骨髓活检显示血小板明显减少。骨质石化症是指一组罕见的遗传性骨骼疾病，其X线表现为骨密度增加。弥漫性硬化导致骨髓受压，进而引起贫血和髓外造血。造血干细胞移植用于治疗与骨髓衰竭相关的最严重类型，是实现长期生存的最佳机会。
