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.

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doi.org/10.1007/s00431-006-0083-6, hdl.handle.net/1765/66566
European Journal of Pediatrics
Department of Neurology

Boot, A.M, de Coo, I.F.M, Pals, G, & de Muinck Keizer-Schrama, S.M.P.F. (2006). Muscle weakness as presenting symptom of osteogenesis imperfecta. European Journal of Pediatrics, 165(6), 392–394. doi:10.1007/s00431-006-0083-6