Muscle weakness as presenting symptom of osteogenesis imperfecta
Muscle weakness as presenting symptom of osteogenesis imperfecta
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DOI：
10.1007/s00431-006-0083-6
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发表时间：
2006-06-01
影响因子：
3.6
通讯作者：
Keizer-Schrama, SMPFD
中科院分区：
文献类型：
--
作者：
Boot, AM;de Coo, RFM;Keizer-Schrama, SMPFD
一名2岁的小男孩出现严重的腿部肌肉无力。肌肉形态和计算机断层成像结果符合代谢性肌病。进一步的检查显示了一具骨质疏松的骨骼和愈合骨折的迹象。皮肤活检显示异常的胶原蛋白电泳图，与成骨不全的变种相一致。通过静脉注射帕米磷酸钠治疗，患者病情好转。
A young boy presented with severe muscle weakness of his legs at the age of 2 years. Muscle morphology and computer tomography imaging findings were compatible with a metabolic myopathy. Additional investigation showed an osteopenic skeleton and signs of healing fractures. A skin biopsy showed an abnormal electrophoresis pattern of collagen, consistent with a variant of osteogenesis imperfecta. The patient improved with intravenous treatment with pamidronate.