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Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I

Published online by Cambridge University Press:  23 September 2014

H.J. McMillan  and
J. Michaud
H.J. McMillan*
Affiliation:
Division of Neurology, University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
J. Michaud
Affiliation:
Department of Pathology and Laboratory Medicine, University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
*
Division of Neurology, Children's Hospital of Eastern Ontario, 401 smyth Road, Ottawa, Ontario, K1H 8L1, Canada. Email: hmcmillan@cheo.on.ca.
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Muscular dystrophies can show clinical and muscle biopsy features that mimic or overlap the changes seen in a primary myositis, particularly in the early stages of disease or when the clinical onset is abrupt. We present a child who was eventually diagnosed with limb girdle muscular dystrophy type 2I (LGMD2i). she presented with mild hip-girdle weakness and post-infectious myalgia. although her clinical symptoms favoured a muscular dystrophy, her muscle biopsy showed inflammatory infiltrates within muscle fibres and around blood vessels that were more typical of juvenile polymyositis. additional immunocytochemical antibody tests and genetic sequencing were key to obtaining an accurate diagnosis and avoiding immunosuppressant therapy.

Type
Brief Communications
Information
Canadian Journal of Neurological Sciences , Volume 40 , Issue 6 , November 2013 , pp. 875 - 877
Copyright
Copyright © The Canadian Journal of Neurological 2013

References

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