婴儿恶性石骨症伴小下颌畸形一例  

A case report of malignant infantile osteopetrosis complicated with micrognathia

作　　者：骆学勤[1] 罗征秀[1] 罗健[1] Luo Xueqin;Luo Zhengxiu;Luo Jian(Respiratory Center,Children's Hospital of Chongqing Medical University;Key Laboratory of Child Development Disease Research of Ministry of Education;Key Laboratory of Pediatrics in Chongqing,Chongqing 400016 ,China)

机构地区：[1]重庆医科大学附属儿童医院呼吸中心,儿童发育疾病研究教育部重点实验室,儿科学重庆市重点实验室,重庆400016

出　　处：《新医学》2018年第12期920-923,共4页Journal of New Medicine

摘　　要：石骨症是一组以破骨细胞减少或功能障碍为主要特征的遗传性骨代谢性疾病。婴儿恶性石骨症(MIOP)是其中最严重的类型,诊断主要依据典型临床表现及X线改变。该文报道1例MIOP患者的临床资料,患儿男,出生49 d,因肺炎入院。其有小下颌畸形,高颚弓,贫血、血小板减少,肝、脾肿大,X线检查显示全身骨密度增高,颅骨呈"面具征",椎骨呈"夹心饼干样",四肢长骨髓腔消失,干骺端膨大呈漏斗状。胸部CT显示胸腔变小。骨髓穿刺为"干抽"。确诊MIOP后予成分输血及抗感染治疗,好转出院。MIOP临床表现典型,儿科医师应提高对该病的认识水平,以及早诊断、治疗。Osteopetrosis is a group of inherited bone metabolic diseases mainly characterized with osteoclast loss and failure.Malignant infantile osteopetrosis(MIOP)is one of the most fatal types.The diagnosis of MIOP is largely dependent upon clinical manifestations and X ray.The clinical data of one MIOP infant were reported.The male infant was aged49d and admitted to our hospital due to pneumonia.He was diagnosed with micrognathia,high palate,anemia,thrombocytopenia and hepatosplenomegaly.X ray demonstrated the signs of systemic increased bone density,the skull was in“mask sign”,the vertebrae was in a“sandwich”shape,the bone marrow cavity of the limbs was absent and the metaphysis was expanded into a funnel shape.Chest CT scan showed the thoracic cavity is small.Bone marrow puncture was performed via dry tap.Subsequently,he received blood transfusion and anti?infection treatment.He was healed and discharged.MIOP possesses specific clinical manifestations.Pediatricians should deepen the understanding of MIOP and deliver early diagnosis and treatment.

关 键 词：婴儿 石骨症 小下颌畸形 

分 类 号：R726.8[医药卫生—儿科] R782[医药卫生—临床医学]