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- Title
Muscle weakness as presenting symptom of osteogenesis imperfecta.
- Authors
Boot, Annemieke M.; De Coo, Rene F. M.; Pals, Gerard; De Muinck Keizer-Schrama, Sabine M. P. F.
- Abstract
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.
- Subjects
OSTEOGENESIS imperfecta; ASTHENIA; MUSCLE diseases; PEDIATRIC diagnosis; TOMOGRAPHY; DIPHOSPHONATES; ELECTROMYOGRAPHY; ELECTROPHORESIS; BONE fractures; INTRAVENOUS therapy; SPINAL injuries; MUSCLE weakness; DISEASE complications; DIAGNOSIS
- Publication
European Journal of Pediatrics, 2006, Vol 165, Issue 6, p392
- ISSN
0340-6199
- Publication type
journal article
- DOI
10.1007/s00431-006-0083-6