Heidemann Malene S, Schou Anders J, Kibaek Maria, Jacobsen Bendt B
Paediatrisk Afdeling H, Odense Universitetshospital, DK-5000 Odense C.
Ugeskr Laeger. 2009 Feb 9;171(7):534.
Malignant infantile osteopetrosis (MIOP) is a hereditary bone disorder caused by osteoclastic dysfunction. Within the first year of life affected children present with recurrent infections, vision impairment, failure to thrive, bone marrow failure, and at later stages neurological deficits and ultimately death. Bone marrow transplant (BMT) is the only curative treatment. We present a patient with MIOP, who showed the first symptoms at three weeks of age, and the disease was diagnosed at 11 months of age. The boy had a successful BMT after which the delayed psychomotor development improved.
恶性婴儿骨硬化症（MIOP）是一种由破骨细胞功能障碍引起的遗传性骨病。患病儿童在出生后第一年内会出现反复感染、视力障碍、发育不良、骨髓衰竭，到后期还会出现神经功能缺损，最终导致死亡。骨髓移植（BMT）是唯一的治愈性治疗方法。我们报告了一名患有MIOP的患者，其在三周龄时出现了最初症状，11月龄时被确诊。该男孩接受了成功的骨髓移植，之后其延迟的精神运动发育得到改善。
