Muscle weakness as presenting symptom of osteogenesis imperfecta

被引：0

作者：

Annemieke M. Boot

Rene F. M. de Coo

Gerard Pals

Sabine M. P. F. de Muinck Keizer-Schrama

机构：

[1] Erasmus MC-Sophia Children’s Hospital,Division of Endocrinology

[2] Erasmus MC-Sophia Children’s Hospital Rotterdam,Department of Neurology

[3] VU Medical Center,Department of Clinical and Human Genetics

[4] Medical Centre Rijnmond Zuid,Department of Pediatrics

来源：

European Journal of Pediatrics | 2006年 / 165卷

关键词：

Children; Muscle weakness; Osteogenesis imperfecta;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：392 / 394

页数：2

共 30 条

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