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Muscle weakness as presenting symptom of osteogenesis imperfecta

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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.

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Abbreviations

BMD:

Bone mineral density

OI:

Osteogenesis imperfecta

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Author information

Authors and Affiliations

  1. Division of Endocrinology, Erasmus MC-Sophia Children’s Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands

    Annemieke M. Boot & Sabine M. P. F. de Muinck Keizer-Schrama

  2. Department of Neurology, Erasmus MC-Sophia Children’s Hospital Rotterdam, Rotterdam, The Netherlands

    Rene F. M. de Coo

  3. Department of Clinical and Human Genetics, VU Medical Center, Amsterdam, The Netherlands

    Gerard Pals

  4. Department of Pediatrics, Medical Centre Rijnmond Zuid, Rotterdam, The Netherlands

    Annemieke M. Boot

Authors
  1. Annemieke M. Boot
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  2. Rene F. M. de Coo
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  3. Gerard Pals
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  4. Sabine M. P. F. de Muinck Keizer-Schrama
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Corresponding author

Correspondence to Annemieke M. Boot.

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Boot, A.M., de Coo, R.F.M., Pals, G. et al. Muscle weakness as presenting symptom of osteogenesis imperfecta. Eur J Pediatr 165, 392–394 (2006). https://doi.org/10.1007/s00431-006-0083-6

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  • DOI: https://doi.org/10.1007/s00431-006-0083-6

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