4例儿童石骨症的临床特征分析  

Clinical characteristics of osteopetrosis in 4 children

作　　者：邓小鹿[1] 尹飞[1] 俞燕[1] 彭镜[1] 

机构地区：[1]中南大学湘雅医院儿科,长沙410008

出　　处：《中南大学学报（医学版）》2011年第6期581-584,共4页Journal of Central South University ：Medical Science

摘　　要：石骨症患儿4例,男性,年龄2月～8岁。3位患儿出生后数月表现出症状,1位患儿有家族史。主要临床表现为贫血、肝脾肿大,影像学表现为骨骼密度广泛增高硬化。石骨症是一种少见的先天性骨发育障碍性疾病,对肝脾大、贫血和X线骨密度普遍增高的患儿应充分考虑石骨症。骨髓移植可以缓解症状,延长生命。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.

关 键 词：石骨症 临床表现 儿童 

分 类 号：R726.8[医药卫生—儿科]