| Journal of Medical Case Reports | |
| Misdiagnosis of inclusion body myositis: two case reports and a retrospective chart review | |
| Said R. Beydoun2  Richard A. Rison1  Amaiak Chilingaryan2  | |
| [1] Keck School of Medicine, University of Southern California, Los Angeles County Medical Center, PIH Health Hospital-Whittier Stroke Program, 12401 Washington Boulevard, Whittier 90602, CA, USA;Neuromuscular Division, Keck School of Medicine, University of Southern California, 1520 San Pablo Street, Suite 3000, Los Angeles 90033, CA, USA | |
| 关键词: Sporadic inclusion body myositis; Misdiagnosis; Amyotrophic lateral sclerosis; | |
| Others : 1231406 DOI : 10.1186/s13256-015-0647-z |
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| received in 2015-01-08, accepted in 2015-07-06, 发布年份 2015 | |
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【 摘 要 】
Introduction
Sporadic inclusion body myositis is the most common adult myopathy in persons aged 50 years and older. The clinical presentation includes a chronic, slowly progressive course with a predilection for weakness of the forearm flexors and quadriceps muscles. Its indolent course makes it a disease frequently missed or misdiagnosed as other neuromuscular conditions by health care professionals. The degenerative processes with amyloid accumulation distinguish sporadic inclusion body myositis from other inflammatory myopathies. Currently, no effective therapy exists. This clinical report highlights the difficulties in diagnosing the disease, examples of misdiagnosis, and inappropriate therapies that can result from misdiagnosis.
Case presentation
We present our clinical experience with 20 patients over a 10-year period and describe in depth two cases, both men, one of Indian ethnicity and the other of Hispanic ethnicity, who were referred to our neuromuscular division for second opinions and diagnosed with sporadic inclusion body myositis years after symptom onset.
Conclusions
Although sporadic inclusion body myositis is rare and without effective therapy, accurate diagnosis is crucial to providing adequate counseling and information about the prognosis and disease course, and to avoiding inappropriate therapy.
【 授权许可】
2015 Chilingaryan et al.
【 预 览 】
| Files | Size | Format | View |
|---|---|---|---|
| 20151109140753224.pdf | 440KB |
【 参考文献 】
- [1]Dalakas MC. Sporadic inclusion body myositis–diagnosis, pathogenesis and therapeutic strategies. Nat Clin Pract Neurol. 2006; 2(8):437-47.
- [2]Dalakas MC, Sonies B, Dambrosia J, Sekul E, Cupler E, Sivakumar K. Treatment of inclusion-body myositis with IVIg: a double-bind, placebo-controlled study. Neurology. 1997; 48:712-16.
- [3]Dimachkie MM, Barohn RJ. Inclusion body myositis. Curr Neurol Neurosci Rep. 2013; 13:321.
- [4]Engel WK, Askanas V. Inclusion-body myositis: clinical, diagnostic, and pathologic aspects. Neurology. 2006; 66(2 Suppl 1):S20-9.
- [5]Murata KY, Kouda K, Tajima F, Kondo T. A dysphagia study in patients with sporadic inclusion body myositis (s-IBM). Neurol Sci. 2012; 33(4):765-70.
- [6]Schellenberg KL, Johnston WS, Kalra S, Resch L, Johnson ES. Inclusion body myositis masquerading as amyotrophic lateral sclerosis. Can J Neurol Sci. 2010; 37(5):687-91.
- [7]Gagnier JJ, Kienle G, Altman DG, Moher D, Sox H, Riley D et al.. The CARE guidelines: consensus-based clinical case report guideline development. J Clin Epidemiol. 2014; 67(1):46-51.
- [8]Rison RA, Kidd MR, Koch CA. The CARE (CAse REport) guidelines and the standardization of case reports. J Med Case Rep. 2013; 7:261. BioMed Central Full Text
- [9]Rison RA. A guide to writing case reports for the Journal of Medical Case Reports and BioMed Central Research Notes. J Med Case Rep. 2013; 7:239. BioMed Central Full Text
- [10]Askanas V, Engel WK, Nogalska A. Inclusion body myositis: a degenerative muscle disease associated with intra-muscle fiber multi-protein aggregates, proteasome inhibition, endoplasmic reticulum stress and decreased lysosomal degradation. Brain Pathol. 2009; 19(3):493-506.
- [11]Salajegheh M, Lam T, Greenberg SA. Autoantibodies against a 43 kDa muscle protein in inclusion body myositis. PLoS One. 2011; 6(5): Article ID e20266
- [12]Larman HB, Salajegheh M, Nazareno R, Lam T, Sauld J, Steen H et al.. Cytosolic 5′-nucleotidase 1A autoimmunity in sporadic inclusion body myositis. Ann Neurol. 2013; 73(3):408-18.
- [13]Pluk H, van Hoeve BJ, van Dooren SH, Stammen-Vogelzangs J, van der Heijden A, Schelhaas HJ et al.. Autoantibodies to cytosolic 5′-nucleotidase 1A in inclusion body myositis. Ann Neurol. 2013; 73(3):397-407.
- [14]Hilton-Jones D, Miller A, Parton M, Holton J, Sewry C, Hanna MG. Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008. Neuromuscul Disord. 2010; 20(2):142-7.
- [15]Chahin N, Engel AG. Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. Neurology. 2008; 70(6):418-24.
- [16]Tawil R, Griggs RC. Inclusion body myositis. Curr Opin Rheumatol. 2002; 14(6):653-7.
- [17]Breithaupt M, Schmidt J. Update on treatment of inclusion body myositis. Curr Rheumatol Rep. 2013; 15:329.
- [18]Cherin P, Pelletier S, Teixeira A, Laforet P, Simon A, Herson S et al.. Intravenous immunoglobulin for dysphagia of inclusion body myositis. Neurology. 2002; 58:326.
- [19]Murata KY, Kouda K, Tajima F, Kondo T. Balloon dilation in sporadic inclusion body myositis patients with dysphagia. Clin Med Insights Case Rep. 2013; 6:1-7.
- [20]Schneider I, Thumfart WF, Pototschnig C, Eckel HE. Treatment of dysfunction of the cricopharyngeal muscle with botulinum A toxin: introduction of a new, noninvasive method. Ann Otol Rhinol Laryngol. 1994; 103:31-5.
- [21]Lotz BP, Engel AG, Nishino H, Stevens JC, Litchy WJ. Inclusion body myositis: observations in 40 patients. Brain. 1989; 112(Pt 3):727-47.
- [22]Needham M, Corbett A, Day T, Christiansen F, Fabian V, Mastaglia FL. Prevalence of sporadic inclusion body myositis and factors contributing to delayed diagnosis. J Clin Neurosci. 2008; 15(12):1350-3.
- [23]Brady S, Squier W, Sewry C, Hanna M, Hilton-Jones D, Holton JL. A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis. BMJ Open. 2014; 4:e004552.
- [24]Rose MR, Working Group ENMCIBM. 188th ENMC International Workshop: inclusion body myositis, 2–4 December 2011, Naarden, the Netherlands. Neuromuscul Disord. 2013; 23:1044-55.
- [25]Brady S, Squier W, Hilton-Jones D. Clinical assessment determines the diagnosis of inclusion body myositis independently of pathological features. J Neurol Neurosurg Psychiatry. 2013; 84:1240-6.
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