Misdiagnosis of multiple sclerosis: Frequency, causes, effects, and prevention

Current Neurology and Neuroscience Reports

Volumn 13, Issue 12, 2013, Pages

  Solomon, Andrew J ^a   Weinshenker, Brian G ^b  

^a UNIVERSITY OF VERMONT   (United States)

^b MAYO CLINIC   (United States)

Author keywords

Causes; Diagnosis; Diagnostic Criteria; Effects; Frequency; Medical error; Mimickers; Misdiagnosis; Multiple sclerosis; Prevention

Indexed keywords

OLIGOCLONAL BAND;

ARTICLE; BRAIN TUMOR; CEREBROVASCULAR DISEASE; CLINICAL EXAMINATION; DEMYELINATING DISEASE; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; FIBROMYALGIA; HUMAN; INFLAMMATORY DISEASE; MIGRAINE; MULTIPLE SCLEROSIS; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; WHITE MATTER LESION; PREVENTION AND CONTROL; PSYCHOLOGY; STATISTICS AND NUMERICAL DATA;

DIAGNOSTIC ERRORS; HUMANS; MULTIPLE SCLEROSIS;

MLCS; MLOWN;

EID: 84885491224     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-013-0403-y     Document Type: Article

References (74)

1. Millar JH, Allison RS. Familial incidence of disseminated sclerosis in Northern Ireland. Ulster Med J. 1954;23 Suppl 2:29-92.
2. Poser CM, Brinar VV. Diagnostic criteria for multiple sclerosis: an historical review. Clin Neurol Neurosurg. 2004;106:147-58. doi: 10.1016/j.clineuro.2004.02.004.
3. Broman T, Bergmann L, Fog T, Gilland O, Hyllested K, Lindberg-Broman AM, et al. Aspects on classification methods in multiple sclerosis. Acta Neurol Scand Suppl. 1965;13(Pt 2):543-8.
4. Schumacker GA, Beebe G, Kibler RF, Kurland LT, Kurtzke JF, McDowell F, et al. Problems of Experimental Trials of Therapy in Multiple Sclerosis: report by the Panel on The Evaluation of Experimental Trials of Therapy in Multiple Sclerosis. Ann NY Acad Sci. 1965;122:552-68.
5. Poser CM, Paty DW, Scheinberg L, McDonald WI, Davis FA, Ebers GC, et al. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol. 1983;13:227-31. doi: 10.1002/ana.410130302.
6. McDonald WI, Compston A, Edan G, Goodkin D, Hartung HP, Lublin FD, et al. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol. 2001;50:121-7.
7. Polman CH, Reingold SC, Edan G, Filippi M, Hartung HP, Kappos L, et al. Diagnostic criteria for multiple sclerosis: 2005 revisions to the McDonald Criteria. Ann Neurol. 2005;58:840-6. doi: 10.1002/ana.20703.
8. Polman CH, Reingold SC, Banwell B, Clanet M, Cohen JA, Filippi M, et al. Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria. Ann Neurol. 2011;69:292-302. doi: 10.1002/ana.22366.
9. •• Selchen D, Bhan V, Blevins G, Devonshire V, Duquette P, Grand'Maison F, et al. MS, MRI, and the 2010 McDonald criteria: a Canadian expert commentary. Neurology. 2012;79(23 Suppl 2):S1-S15. doi: 10.1212/WNL.0b013e318277d144. Important contemporary commentary regarding the limitations of current MS diagnostic crtieria.
10. Herndon RM. Multiple sclerosis mimics. Adv Neurol. 2006;98:161-6.
11. Bowen J. Diagnosing multiple sclerosis and its imitators. Phys Med Rehab Clin NA. 2005;16:359-81. doi: 10.1016/j.pmr.2005.01.011.
12. Miller DH, Weinshenker BG, Filippi M, Banwell BL, Cohen JA, Freedman MS, et al. Differential diagnosis of suspected multiple sclerosis: a consensus approach. Mult Scler. 2008;14:1157-74. doi: 10.1177/1352458508096878.
13. Natowicz MR, Bejjani B. Genetic disorders that masquerade as multiple sclerosis. Am J Med Genet. 1994;49:149-69. doi: 10.1002/ajmg.1320490202.
14. Davis RL, Robertson DM. Textbook of neuropathology. 2nd ed. Baltimore: Williams & Wilkins; 1990.
15. Engell T. A clinico-pathoanatomical study of multiple sclerosis diagnosis. Acta Neurol Scand. 1988;78:39-44.
16. Herndon RMBB. Misdiagnosis of multiple sclerosis. Semin Neurol. 1985;5:94-8.
17. Rudick RA, Schiffer RB, Schwetz KM, Herndon RM. Multiple sclerosis. The problem of incorrect diagnosis. Arch Neurol. 1986;43:578-83.
18. Noseworthy JH, Rice GP. Trichlorethylene poisoning mimicking multiple sclerosis. Can J Neurol Sci. 1988;15:87-8.
19. Bender GP, Schapiro RT. Primary CNS lymphoma presenting as multiple sclerosis. A case study. Minn Med. 1989;72:157-60.
20. Bussone G, La Mantia L, Grazzi L, Lamperti E, Salmaggi A, Strada L. Neurobrucellosis mimicking multiple sclerosis: a case report. Eur Neurol. 1989;29:238-40.
21. Scott TF, Hess D, Brillman J. Antiphospholipid antibody syndrome mimicking multiple sclerosis clinically and by magnetic resonance imaging. Arch Int Med. 1994;154:917-20.
22. Vrethem M, Thuomas KA, Hillman J. Cavernous angioma of the brain stem mimicking multiple sclerosis. N Engl J Med. 1997;336:875-6. doi: 10.1056/nejm199703203361213.
23. Dougan CF, Coulthard A, Cartlidge NE, Burn DJ. Familial cavernous angiomas masquerading as multiple sclerosis. Postgrad Med J. 1998;74:489-91.
24. Russo MB, Brooks FR, Fontenot J, Dopler BM, Neely ET, Halliday AW. Conversion disorder presenting as multiple sclerosis. Milit Med. 1998;163:709-10.
25. Cader MZ, Winer JB. Lesson of the week: cavernous haemangioma mimicking multiple sclerosis. BMJ (Clin Res ed). 1999;318:1604-5.
26. Ormsby A, Prayson RA, Heard R. Angiotrophic large cell lymphoma mimicking multiple sclerosis associated transverse myelitis. J Clin Neurosci. 1999;6:408-10. doi: 10.1054/jocn.1998.0091.
27. Evans RW, Rolak LA. Migraine vs multiple sclerosis. Headache. 2001;41:97-8.
28. O'Riordan S, Nor AM, Hutchinson M. CADASIL imitating multiple sclerosis: the importance of MRI markers. Mult Scler. 2002;8:430-2.
29. Tiryaki E, Azzarelli B, Biller J. Superficial siderosis of the central nervous system in a patient with chronic subarachnoid hemorrhage misdiagnosed as multiple sclerosis. J Stroke Cerebrovasc Dis. 2002;11:288-9. doi: 10.1053/jscd.2002.129618.
30. Fernandez-Fernandez FJ, Rivera-Gallego A, de la Fuente-Aguado J, Perez-Fernandez S, Munoz-Fernandez D. Antiphospholipid syndrome mimicking multiple sclerosis in two patients. Eur J Int Med. 2006;17:500-2. doi: 10.1016/j.ejim.2006.02.018.
31. Rafalowska J, Dziewulska D, Podlecka A, Zakrzewska-Pniewska B. Extensive mixed vascular malformation clinically imitating multiple sclerosis - case report. Clin Neuropathol. 2006;25:237-42.
32. Saip S, Uluduz D, Erkol G. Fabry disease mimicking multiple sclerosis. Clin Neurol Neurosurg. 2007;109:361-3. doi: 10.1016/j.clineuro.2006.12.006.
33. Beeravolu LR, Frohman EM, Frohman TC, Remington GM, Lee S, Levin MC. Pearls & Oy-sters: Not multiple sclerosis and the changing face of HTLV-1: a case report of downbeat nystagmus. Neurology. 2009;72:e119-20. doi: 10.1212/WNL.0b013e3181aa5316.
34. Boentert M, Kraus J, Kloska S, Dittrich R, Nabavi DG, Niederstadt T, et al. Obliterating intracranial vasculopathy mimicking multiple sclerosis. Acta Neurol Scand. 2009;120:68-71. doi: 10.1111/j.1600-0404.2008.01121.x.
35. Chebel S, Barboura I, Boughammoura-Bouatay A, Ammar M, Ferchichi S, Miled A, et al. Adult-type metachromatic leukodystrophy mimicking multiple sclerosis. Can J Neurol Sci. 2009;36:521-3.
36. Matsuo Y, Kamezaki K, Takeishi S, Takenaka K, Eto T, Nonami A, et al. Encephalomyelitis mimicking multiple sclerosis associated with chronic graft-vs-host disease after allogeneic bone marrow transplantation. Int Med (Tokyo, Japan). 2009;48:1453-6.
37. Papadimas GK, Rentzos M, Zouvelou V, Kilidireas K, Konstantinopoulou A, Kokotis P, et al. Superficial siderosis of central nervous system mimicking multiple sclerosis. Neurologist. 2009;15:153-5. doi: 10.1097/NRL. 0b013e31818a5d3a.
38. Brinar VV, Habek M. Rare infections mimicking MS. Clin Neurol Neurosurg. 2010;112:625-8. doi: 10.1016/j.clineuro.2010.04.011.
39. Utsuki S, Oka H, Miyazaki T, Yamazaki T, Yasui Y, Fujii K, et al. Primary central nervous system large B-cell lymphoma with prolific, mixed T-cell and macrophage infiltrates, mimicking multiple sclerosis. Brain Tumor Pathol. 2010;27:59-63. doi: 10.1007/s10014-010-0264-x.
40. Stricker RB, Johnson L. 'Rare' infections mimicking multiple sclerosis: consider Lyme disease. Clin Neurol Neurosurg. 2011;113:259-60. doi: 10.1016/j.clineuro.2010.11.017.
41. Dorfman LJ, Fischbein NJ, Woodard JI, Choudhri O, Bell-Stephens TE, Steinberg GK. Moyamoya disease can masquerade as multiple sclerosis. Neurologist. 2012;18:398-403. doi: 10.1097/NRL.0b013e31826a99a1.
42. Ohe Y, Hayashi T, Mishima K, Nishikawa R, Sasaki A, Matsuda H, et al. Central nervous system lymphoma initially diagnosed as tumefactive multiple sclerosis after brain biopsy. Int Med (Tokyo, Japan). 2013;52:483-8.
43. Murray TJ, Murray SJ. Characteristics of patients found not to have multiple sclerosis. Can Med Assoc J. 1984;131:336-7.
44. Carmosino MJ, Brousseau KM, Arciniegas DB, Corboy JR. Initial evaluations for multiple sclerosis in a university multiple sclerosis center: outcomes and role of magnetic resonance imaging in referral. Arch Neurol. 2005;62:585-90. doi: 10.1001/archneur.62.4.585.
45. Brousseau KM, Arciniegas DB, Carmosino MJ, Corboy JR. The differential diagnosis of Axis I psychopathology presenting to a university-based multiple sclerosis clinic. Mult Scler. 2007;13:749-53. doi: 10.1177/1352458506075032.
46. Pelidou SH, Giannopoulos S, Tzavidi S, Tsifetaki N, Kitsos G, Stefanou D, et al. Neurological manifestations of connective tissue diseases mimicking multiple sclerosis. Rheumatol Int. 2007;28:15-20. doi: 10.1007/s00296-007-0384- 8.
47. Poser CM. Misdiagnosis of multiple sclerosis and beta-interferon. Lancet. 1997;349:1916. doi: 10.1016/s0140-6736(05)63920-7.
48. Nielsen JM, Korteweg T, Barkhof F, Uitdehaag BM, Polman CH. Overdiagnosis of multiple sclerosis and magnetic resonance imaging criteria. Ann Neurol. 2005;58:781-3. doi: 10.1002/ana.20632.
49. • Solomon AJ, Klein EP, Bourdette D. Undiagnosing multiple sclerosis: the challenge of misdiagnosis in MS. Neurology. 2012;78:1986-91. doi: 10.1212/WNL.0b013e318259e1b2. Recent survey concerning MS misdiagnosis providing data on frequency and hypothesized causes.
50. Poser CM, Brinar VV. Problems with diagnostic criteria for multiple sclerosis. Lancet. 2001;358:1746-7. doi: 10.1016/s0140-6736(01)06842-8.
51. Rudick RA. Diagnostic criteria in multiple sclerosis: headed in the right direction but still a ways to go. Ann Neurol. 2011;69:234-6. doi: 10.1002/ana.22388.
52. Schiffer RB, Giang DW, Mushlin A, Ketonen L, Joy S, Kido D, et al. Perils and pitfalls of magnetic resonance imaging in the diagnosis of multiple sclerosis. The Rochester-Toronto MRI Study Group. J Neuroimag. 1993;3:81-8.
53. Whiting P, Harbord R, Main C, Deeks JJ, Filippini G, Egger M, et al. Accuracy of magnetic resonance imaging for the diagnosis of multiple sclerosis: systematic review. BMJ (Clin Res Ed). 2006;332:875-84. doi: 10.1136/bmj.38771. 583796.7C.
54. Kim SS, Richman DP, Johnson WO, Hald JK, Agius MA. Limited utility of current MRI criteria for distinguishing multiple sclerosis from common mimickers: primary and secondary CNS vasculitis, lupus and Sjogren's syndrome. Multiple Sclerosis. 2013. doi: 10.1177/1352458513491329.
55. • Liu S, Kullnat J, Bourdette D, Simon J, Kraemer DF, Murchison C, et al. Prevalence of brain magnetic resonance imaging meeting Barkhof and McDonald criteria for dissemination in space among headache patients. Multiple Sclerosis. 2013. doi: 10.1177/1352458512471874. Recent study demonstrating the limitations of MS imaging crtieria.
56. Charil A, Yousry TA, Rovaris M, Barkhof F, De Stefano N, Fazekas F, et al. MRI and the diagnosis of multiple sclerosis: expanding the concept of no better explanation. Lancet Neurol. 2006;5:841-52. doi: 10.1016/s1474-4422(06) 70572-5.
57. Polman CH, Wolinsky JS, Reingold SC. Multiple sclerosis diagnostic criteria: three years later. Mult Scler. 2005;11:5-12.
58. Okuda DT, Mowry EM, Beheshtian A, Waubant E, Baranzini SE, Goodin DS, et al. Incidental MRI anomalies suggestive of multiple sclerosis: the radiologically isolated syndrome. Neurology. 2009;72:800-5. doi: 10.1212/01.wnl.0000335764.14513.1a.
59. Bourdette D, Yadav V. The radiologically isolated syndrome revisited: when is it presymptomatic multiple sclerosis? Neurology. 2011;76:680-1. doi: 10.1212/WNL.0b013e31820e7769.
60. Bourdette D, Yadav V. Treat patients with radiologically isolated syndrome when the MRI brain scan shows dissemination in time no. Multiple. 2012;18:1529-30. doi: 10.1177/1352458512462075.
61. Spain R, Bourdette D. The radiologically isolated syndrome: look (again) before you treat. Curr Neurol Neurosci Rep. 2011;11:498-506. doi: 10.1007/s11910-011-0213-z.
62. Groopman JE. How doctors think. Boston: Houghton Mifflin; 2007.
63. Boissy AR, Ford PJ. A touch of MS: therapeutic mislabeling. Neurology. 2012;78:1981-5. doi: 10.1212/WNL.0b013e318259e0ec.
64. Tullman MJ. Overview of the epidemiology, diagnosis, and disease progression associated with multiple sclerosis. Am J Manag Care. 2013;19(2 Suppl):S15-20.
65. Rudick RA, Miller AE. Multiple sclerosis or multiple possibilities: the continuing problem of misdiagnosis. Neurology. 2012;78:1904-6. doi: 10.1212/WNL.0b013e318259e2e2.
66. Solomon AJ, Klein E. Disclosing a misdiagnosis of multiple sclerosis: do no harm? Continuum. 2013;19(4 Multiple Sclerosis):1087-91. doi: 10.1212/01.CON.0000433281.18146.5b.
67. Kohn LT, Corrigan J, Donaldson MS. To err is human: building a safer health system. Washington: National Academy Press; 2000.
68. Dobson R, Ramagopalan S, Davis A, Giovannoni G. Cerebrospinal fluid oligoclonal bands in multiple sclerosis and clinically isolated syndromes: a meta-analysis of prevalence, prognosis and effect of latitude. J Neurol Neurosurg Psychiatry. 2013. doi: 10.1136/jnnp-2012-304695.
69. Alvarez-Cermeno JC, Villar LM. Multiple sclerosis: oligoclonal bands-a useful tool to avoid MS misdiagnosis. Nature Rev Neurol. 2013. doi: 10.1038/nrneurol.2013.74.
70. Hutchinson M. CSF oligoclonal bands are important in the diagnosis of multiple sclerosis, unreasonably downplayed by the McDonald Criteria 2010: commentary. Mult Scler. 2013;19:719-20. doi: 10.1177/1352458513485496.
71. Sandberg-Wollheim M, Olsson T. Cerebrospinal fluid oligoclonal bands are important in the diagnosis of multiple sclerosis, unreasonably downplayed by the McDonald criteria 2010: yes. Mult Scler. 2013;19:714-6. doi: 10.1177/1352458513480011.
72. Bates D. Treatment effects of immunomodulatory therapies at different stages of multiple sclerosis in short-term trials. Neurology. 2011;76(1 Suppl 1):S14-25. doi: 10.1212/WNL.0b013e3182050388.
73. Coyle PK. Early treatment of multiple sclerosis to prevent neurologic damage. Neurology. 2008;71(24 Suppl 3):S3-7. doi: 10.1212/WNL.0b013e31818f3d6f.
74. Goodin DS, Reder AT, Ebers GC, Cutter G, Kremenchutzky M, Oger J, et al. Survival in MS: a randomized cohort study 21 years after the start of the pivotal IFNbeta-1b trial. Neurology. 2012;78:1315-22. doi: 10.1212/WNL. 0b013e3182535cf6.