Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I

H.J. McMillan; J. Michaud

doi:10.1017/S0317167100016061

Published online by Cambridge University Press: 23 September 2014

H.J. McMillan and

J. Michaud

Show author details

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.

Extract

HTML view is not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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.

References

1. Stensland, E, Lindal, S, Jonsrud, C, et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with limb girdle muscular dystrophy 2I. Neuromuscul Disord. 2011; 21(1):41–6.CrossRef Google Scholar PubMed

2. Brown, SC, Torelli, S, Brockington, M, et al. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol. 2004;164(2):727–37.CrossRef Google Scholar PubMed

3. Sveen, ML, Schwartz, M, Vissing, J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol. 2006;59(5):808–15.CrossRef Google Scholar

4. Benveniste, O, Romero, NB. Myositis or dystrophy? Traps and pitfalls. Presse Med. 2011;40(4 Pt 2):e249–55.CrossRef Google Scholar

5. D'arcy, CE, Ryan, MM, McLean, CA. Juvenile polymyositis or paediatric muscular dystrophy: a detailed re-analysis of 13 cases. Histopathology. 2009;55(4):452–62.CrossRef Google Scholar PubMed

6. Darin, N, Kroksmark, AK, Ahlander, AC, et al. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. Eur J Paediatr Neurol. 2007;11(6):353–7.CrossRef Google Scholar PubMed

Please list any fees and grants from, employment by, consultancy for, shared ownership in or any close relationship with, at any time over the preceding 36 months, any organisation whose interests may be affected by the publication of the response. Please also list any non-financial associations or interests (personal, professional, political, institutional, religious or other) that a reasonable reader would want to know about in relation to the submitted work. This pertains to all the authors of the piece, their spouses or partners.

Article contents

Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I

Extract

References

This article has been cited by the following publications. This list is generated based on data provided by CrossRef.

Article contents

Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I

Extract

References

Send article to Kindle

Send article to Dropbox

Send article to Google Drive

Reply to: Submit a response

Your details

Conflicting interests