Aktuelle Neurologie 2012; 39(02): 83-99
DOI: 10.1055/s-0032-1304603
Übersicht
© Georg Thieme Verlag KG Stuttgart · New York

Differenzialdiagnose der Multiplen Sklerose (MS) – MS Mimicks

Differential Diagnosis of Suspected Multiple Sclerosis (MS) – MS Mimicks
B. F. Décard*
1   Klinik für Neurologie, St. Josef Hospital, Klinikum der Ruhr-Universität Bochum
,
J. Thöne*
1   Klinik für Neurologie, St. Josef Hospital, Klinikum der Ruhr-Universität Bochum
,
R. Gold
1   Klinik für Neurologie, St. Josef Hospital, Klinikum der Ruhr-Universität Bochum
› Author Affiliations
Further Information

Publication History

Publication Date:
14 March 2012 (online)

Zusammenfassung

Die Multiple Sklerose (MS) ist die häufigste neurologische Erkrankung des jungen Erwachsenenalters und führt im Erkrankungsverlauf häufig zu schwerwiegenden und bleibenden Behinderungen. Zu Beginn der Erkrankung stehen autoimmun-entzündliche Prozesse im Vordergrund, die zur Demyelinisierung von Axonen im ZNS führen. Im weiteren Verlauf der Erkrankung schließt sich nach mehreren Jahren in der Regel eine neurodegenerative Phase mit irreversiblem Verlust von Axonen und Neuronen an, die klinisch gekennzeichnet ist durch bleibende oder fortschreitende neurologische Defizite. Neuere Erkenntnisse weisen jedoch daraufhin, dass insbesondere die axonale Schädigung bereits in einer frühen Phase der MS auftritt und hierdurch der weitere Erkrankungsverlauf mitbestimmt wird. Die meisten der neuen Medikamente zur Behandlung der MS haben immunmodulatorische oder immunsuppressive Therapieansätze und konnten ihre Wirksamkeit insbesondere in frühen Erkrankungsphasen, in denen autoimmun-entzündliche Prozesse im Vordergrund stehen, unter Beweis stellen. Um eine adäquate und erfolgreiche Therapie der MS zu initiieren, ist demnach die möglichst rasche Diagnosestellung von großer Bedeutung. Die Erstdiagnose der MS kann heute mithilfe der revidierten McDonald Diagnosekriterien bereits früh im Verlauf der Erkrankung gestellt werden, prinzipiell schon beim ersten Schub. Eine Vielzahl von Krankheitsbildern können jedoch insbesondere zu Erkrankungsbeginn ähnliche Symptomkomplexe und bildmorphologische Korrelate aufweisen und so die Diagnosestellung der MS erheblich erschweren. In der folgenden Übersichtsarbeit werden daher Erkrankungen vorgestellt, die in ihrer klinischen Präsentation oder auch durch die Befunde der laborchemischen, elektrophysiologischen oder bildgebenden Untersuchungen, eine MS vortäuschen können und daher als wichtige Differenzialdiagnosen in Betracht gezogen werden sollten.

Abstract

Multiple sclerosis (MS) is the most frequent neurological disease in young adults and often leads to severe and permanent disabilities in the further course of the disease. In the initial stage of the disease autoimmune-inflammatory processes predominate and lead to demyelination of axons in the CNS. In the further course of the disease a neurodegenerative phase with an irreversible loss of axons and neurons usually follows after several years; this is characterised clinically by persistent or progressive neurological deficits. However, recent research results suggest that especially the axonal damage already occurs in an early phase of MS and that this determines in part the further course of the disease. Most of the new drugs for the treatment of MS have immunomodulatory or immunosuppressive therapeutic actions and have proven their efficacy particularly in the early phase of the disease when autoimmune-inflammatory processes dominate. In order to initiate an adequate and successful therapy it is of great importance that the diagnosis of MS is made as early as possible. According to the revised McDonald criteria (2010) the diagnosis of MS can today be made early in the course of the disease, in principal after the first exacerbation. However, many clinical entities may exhibit similar symptoms or findings on MRI imaging, which makes the diagnosis difficult, especially at the start of the disease course. In the present review we discuss diseases that can mimick MS based on their account of their clinical presentation or through the findings of laboratory chemical, electrophysiological examination and thus must be considered as important differential diagnoses.

*

* Contributed equally


 
  • Literatur

  • 1 Compston A, Coles A. Multiple sclerosis. Lancet 2008; 372: 1502-1517
  • 2 Steinman L. Multiple sclerosis: a two-stage disease. Nat Immunol 2001; 2: 762-764
  • 3 Trapp BD, Peterson J, Ransohoff RM et al. Axonal transection in the lesions of multiple sclerosis. N Engl J Med 1998; 338: 278-285
  • 4 Diener HC, Putzki N, Berlit P. Leitlinien für Diagnostik un Therapie in der Neurologie 2008. Kapitel Diagnostik und Therapie der Multiplen Sklerose. Federführend Gold R, Hartung HP. Stuttgart, New York: Thieme; 2008
  • 5 McDonald WI, Compston A, Edan G et al. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001; 50: 121-127
  • 6 Polman CH, Reingold SC, Banwell B et al. Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria. Ann Neurol 2011; 69: 292-302
  • 7 Miller DH, Weinshenker BG, Filippi M et al. Differential diagnosis of suspected multiple sclerosis: a consensus approach. Mult Scler 2008; 14: 1157-1174
  • 8 Murthy SN, Faden HS, Cohen ME et al. Acute disseminated encephalomyelitis in children. Pediatrics 2002; 110: e21
  • 9 Tenembaum S, Chamoles N, Fejerman N. Acute disseminated encephalomyelitis: a long-term follow-up study of 84 pediatric patients. Neurology 2002; 59: 1224-1231
  • 10 Leake JA, Albani S, Kao AS et al. Acute disseminated encephalomyelitis in childhood: epidemiologic, clinical and laboratory features. Pediatr Infect Dis J 2004; 23: 756-764
  • 11 Menge T, Hemmer B, Nessler S et al. Acute disseminated encephalomyelitis: an update. Arch Neurol 2005; 62: 1673-1680
  • 12 Tenembaum S, Chitnis T, Ness J et al. Acute disseminated encephalomyelitis. Neurology 2007; 68: S23-S36
  • 13 Marchioni E, Ravaglia S, Piccolo G et al. Postinfectious inflammatory disorders: subgroups based on prospective follow-up. Neurology 2005; 65: 1057-1065
  • 14 Menge T, Kieseier BC, Nessler S et al. Acute disseminated encephalomyelitis: an acute hit against the brain. Curr Opin Neurol 2007; 20: 247-254
  • 15 Lalive PH, Hausler MG, Maurey H et al. Highly reactive anti-myelin oligodendrocyte glycoprotein antibodies differentiate demyelinating diseases from viral encephalitis in children. Mult Scler 2011; 17: 297-302
  • 16 Di Pauli F, Mader S, Rostasy K et al. Temporal dynamics of anti-MOG antibodies in CNS demyelinating diseases. Clin Immunol 2011; 138: 247-254
  • 17 Chan A, Decard BF, Franke C et al. Serum antibodies to conformational and linear epitopes of myelin oligodendrocyte glycoprotein are not elevated in the preclinical phase of multiple sclerosis. Mult Scler 2010; 16: 1189-1192
  • 18 Kuhle J, Pohl C, Mehling M et al. Lack of association between antimyelin antibodies and progression to multiple sclerosis. N Engl J Med 2007; 356: 371-378
  • 19 Maiwald M, Oehme R, March O et al. Transmission risk of Borrelia burgdorferi sensu lato from Ixodes ricinus ticks to humans in southwest Germany. Epidemiol Infect 1998; 121: 103-108
  • 20 Paul H, Gerth HJ, Ackermann R. Infectiousness for humans of Ixodes ricinus containing Borrelia burgdorferi. Zentralbl Bakteriol Mikrobiol Hyg A 1987; 263: 473-476
  • 21 Diener HC, Putzki N, Berlit P. Leitlinien für Diagnostik un Therapie in der Neurologie 2008. Stuttgart, New York: Thieme; 2008
  • 22 Pachner AR, Steiner I. Lyme neuroborreliosis: infection, immunity, and inflammation. Lancet Neurol 2007; 6: 544-552
  • 23 Reimers CD, Fleckenstein JL, Witt TN et al. Muscular ultrasound in idiopathic inflammatory myopathies of adults. J Neurol Sci 1993; 116: 82-92
  • 24 Wilske B, Fingerle V, Schulte-Spechtel U. Microbiological and serological diagnosis of Lyme borreliosis. FEMS Immunol Med Microbiol 2007; 49: 13-21
  • 25 Agarwal R, Sze G. Neuro-lyme disease: MR imaging findings. Radiology 2009; 253: 167-173
  • 26 Calabrese LH, Mallek JA. Primary angiitis of the central nervous system. Report of 8 new cases, review of the literature, and proposal for diagnostic criteria. Medicine (Baltimore) 1988; 67: 20-39
  • 27 Moore PM. Diagnosis and management of isolated angiitis of the central nervous system. Neurology 1989; 39: 167-173
  • 28 Moore PM, Richardson B. Neurology of the vasculitides and connective tissue diseases. J Neurol Neurosurg Psychiatry 1998; 65: 10-22
  • 29 Salvarani C, Brown Jr RD, Calamia KT et al. Primary CNS vasculitis with spinal cord involvement. Neurology 2008; 70: 2394-2400
  • 30 Berlit P. Diagnosis and treatment of cerebral vasculitis. Ther Adv Neurol Disord 2010; 3: 29-42
  • 31 Gerretsen P, Kern RZ. Reversible cerebral vasoconstriction syndrome or primary angiitis of the central nervous system?. Can J Neurol Sci 2007; 34: 467-477
  • 32 Berlit P. Isolated angiitis of the CNS and bacterial endocarditis: similarities and differences. J Neurol 2009; 256: 792-795
  • 33 Lukas C, Keyvani K, Bornke C. Primary angiitis of the central nervous system presenting with subacute and fatal course of disease: a case report. BMC Neurol 2005; 5: 16
  • 34 Lennon VA, Wingerchuk DM, Kryzer TJ et al. A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 2004; 364: 2106-2112
  • 35 Lennon VA, Kryzer TJ, Pittock SJ et al. IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med 2005; 202: 473-477
  • 36 Trebst C, Berthele A, Jarius S et al. Diagnosis and treatment of neuromyelitis optica. Consensus recommendations of the Neuromyelitis Optica Study Group. Nervenarzt 2011; 82: 768-777
  • 37 McKeon A, Lennon VA, Jacob A et al. Coexistence of myasthenia gravis and serological markers of neurological autoimmunity in neuromyelitis optica. Muscle Nerve 2009; 39: 87-90
  • 38 Pittock SJ, Lennon VA, de Seze J et al. Neuromyelitis optica and non organ-specific autoimmunity. Arch Neurol 2008; 65: 78-83
  • 39 Jarius S, Jacobi C, de Seze J et al. Frequency and syndrome specificity of antibodies to aquaporin-4 in neurological patients with rheumatic disorders. Mult Scler 2011; 17: 1067-1073
  • 40 Wandinger KP, Stangel M, Witte T et al. Autoantibodies against aquaporin-4 in patients with neuropsychiatric systemic lupus erythematosus and primary Sjogren’s syndrome. Arthritis Rheum 2010; 62: 1198-1200
  • 41 Wingerchuk DM, Hogancamp WF, O’Brien PC et al. The clinical course of neuromyelitis optica (Devic’s syndrome). Neurology 1999; 53: 1107-1114
  • 42 Magana SM, Matiello M, Pittock SJ et al. Posterior reversible encephalopathy syndrome in neuromyelitis optica spectrum disorders. Neurology 2009; 72: 712-717
  • 43 Pittock SJ, Lennon VA, Krecke K et al. Brain abnormalities in neuromyelitis optica. Arch Neurol 2006; 63: 390-396
  • 44 Wingerchuk DM, Lennon VA, Pittock SJ et al. Revised diagnostic criteria for neuromyelitis optica. Neurology 2006; 66: 1485-1489
  • 45 Lee DH, Metz I, Berthele A et al. Supraspinal demyelinating lesions in neuromyelitis optica display a typical astrocyte pathology. Neuropathol Appl Neurobiol 2010; 36: 685-687
  • 46 Jarius S, Paul F, Franciotta D et al. Cerebrospinal fluid findings in aquaporin-4 antibody positive neuromyelitis optica: results from 211 lumbar punctures. J Neurol Sci 2011; 306: 82-90
  • 47 Terushkin V, Stern BJ, Judson MA et al. Neurosarcoidosis: presentations and management. Neurologist 2010; 16: 2-15
  • 48 Scott TF, Yandora K, Kunschner LJ et al. Neurosarcoidosis mimicry of multiple sclerosis: clinical, laboratory, and imaging characteristics. Neurologist 2010; 16: 386-389
  • 49 Kaneko F, Togashi A, Saito S et al. Behcet’s disease (Adamantiades-Behcet’s disease). Clin Dev Immunol 2011; 681956
  • 50 Serdaroglu P, Yazici H, Ozdemir C et al. Neurologic involvement in Behcet’s syndrome. A prospective study. Arch Neurol 1989; 46: 265-269
  • 51 Al-Araji A, Kidd DP. Neuro-Behcet’s disease: epidemiology, clinical characteristics, and management. Lancet Neurol 2009; 8: 192-204
  • 52 Criteria for diagnosis of Behcet’s disease . International Study Group for Behcet’s Disease. Lancet 1990; 335: 1078-1080
  • 53 Tan EM, Cohen AS, Fries JF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 1271-1277
  • 54 The American College of Rheumatology nomenclature and case definitions for neuropsychiatric lupus syndromes. Arthritis Rheum 1999; 42: 599-608
  • 55 Toubi E, Khamashta MA, Panarra A et al. Association of antiphospholipid antibodies with central nervous system disease in systemic lupus erythematosus. Am J Med 1995; 99: 397-401
  • 56 Ferreira S, D’Cruz DP, Hughes GR. Multiple sclerosis, neuropsychiatric lupus and antiphospholipid syndrome: where do we stand?. Rheumatology (Oxford) 2005; 44: 434-442
  • 57 Scolding NJ, Joseph FG. The neuropathology and pathogenesis of systemic lupus erythematosus. Neuropathol Appl Neurobiol 2002; 28: 173-189
  • 58 Wingerchuk DM, Lennon VA, Lucchinetti CF et al. The spectrum of neuromyelitis optica. Lancet Neurol 2007; 6: 805-815
  • 59 Hirohata S, Hirose S, Miyamoto T. Cerebrospinal fluid IgM, IgA, and IgG indexes in systemic lupus erythematosus. Their use as estimates of central nervous system disease activity. Arch Intern Med 1985; 145: 1843-1846
  • 60 Winfield JB, Shaw M, Silverman LM et al. Intrathecal IgG synthesis and blood-brain barrier impairment in patients with systemic lupus erythematosus and central nervous system dysfunction. Am J Med 1983; 74: 837-844
  • 61 Deodhar AA, Hochenedel T, Bennett RM. Longitudinal involvement of the spinal cord in a patient with lupus related transverse myelitis. J Rheumatol 1999; 26: 446-449
  • 62 Provenzale JM, Barboriak DP, Gaensler EH et al. Lupus-related myelitis: serial MR findings. AJNR Am J Neuroradiol 1994; 15: 1911-1917
  • 63 Hughes GR. Thrombosis, abortion, cerebral disease, and the lupus anticoagulant. Br Med J (Clin Res Ed) 1983; 287: 1088-1089
  • 64 Theodoridou A, Settas L. Demyelination in rheumatic diseases. J Neurol Neurosurg Psychiatry 2006; 77: 290-295
  • 65 Alexander EL. Central nervous system (CNS) manifestations of primary Sjogren’s syndrome: an overview. Scand J Rheumatol Suppl 1986; 61: 161-165
  • 66 Alexander EL, Provost TT, Stevens MB et al. Neurologic complications of primary Sjogren’s syndrome. Medicine (Baltimore) 1982; 61: 247-257
  • 67 Anaya JM, Villa LA, Restrepo L et al. Central nervous system compromise in primary Sjogren’s syndrome. J Clin Rheumatol 2002; 8: 189-196
  • 68 Delalande S, de Seze J, Fauchais AL et al. Neurologic manifestations in primary Sjogren syndrome: a study of 82 patients. Medicine (Baltimore) 2004; 83: 280-291
  • 69 Massara A, Bonazza S, Castellino G et al. Central nervous system involvement in Sjogren’s syndrome: unusual, but not unremarkable–clinical, serological characteristics and outcomes in a large cohort of Italian patients. Rheumatology (Oxford) 2010; 49: 1540-1549
  • 70 Vrethem M, Ernerudh J, Lindstrom F et al. Immunoglobulins within the central nervous system in primary Sjogren’s syndrome. J Neurol Sci 1990; 100: 186-192
  • 71 Jennette JC, Falk RJ. Nosology of primary vasculitis. Curr Opin Rheumatol 2007; 19: 10-16
  • 72 Lamprecht P, Holle J, Gross WL. Update on clinical, pathophysiological and therapeutic aspects in ANCA-associated vasculitides. Curr Drug Discov Technol 2009; 6: 241-251
  • 73 Neuhaus O, Hartung HP. Neurological aspects of systemic rheumatological disorders. Z Rheumatol 2004; 63: 104-112
  • 74 Scarrow AM, Segal R, Medsger Jr TA et al. Communicating hydrocephalus secondary to diffuse meningeal spread of Wegener’s granulomatosis: case report and literature review. Neurosurgery 1998; 43: 1470-1473
  • 75 Di Comite G, Bozzolo EP, Praderio L et al. Meningeal involvement in Wegener’s granulomatosis is associated with localized disease. Clin Exp Rheumatol 2006; 24: S60-S64
  • 76 Spranger M, Schwab S, Meinck HM et al. Meningeal involvement in Wegener’s granulomatosis confirmed and monitored by positive circulating antineutrophil cytoplasm in cerebrospinal fluid. Neurology 1997; 48: 263-265
  • 77 Cooper SA, van der Loeff MS, Taylor GP. The neurology of HTLV-1 infection. Pract Neurol 2009; 9: 16-26
  • 78 Nagai M, Osame M. Human T-cell lymphotropic virus type I and neurological diseases. J Neurovirol 2003; 9: 228-235
  • 79 Robert Koch Institut . Syphilis in Deutschland im Jahr 2008. Epid Bull 2009; 2009: 503-507
  • 80 Robert Koch Institut RKI-Ratgeber für Ärzte: Syphilis (Lues) 2007
  • 81 Golden MR, Marra CM, Holmes KK. Update on syphilis: resurgence of an old problem. JAMA 2003; 290: 1510-1514
  • 82 Carmel R. Current concepts in cobalamin deficiency. Annu Rev Med 2000; 51: 357-375
  • 83 Stabler SP, Allen RH, Savage DG et al. Clinical spectrum and diagnosis of cobalamin deficiency. Blood 1990; 76: 871-881
  • 84 Coelho D, Suormala T, Stucki M et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med 2008; 358: 1454-1464
  • 85 Gold R, Bogdahn U, Kappos L et al. Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset. J Neurol Neurosurg Psychiatry 1996; 60: 107-108
  • 86 Haworth JC, Dilling LA, Surtees RA et al. Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers. Am J Med Genet 1993; 45: 572-576
  • 87 Alatab S, Hossein-nezhad A, Mirzaei K et al. Inflammatory profile, age of onset, and the MTHFR polymorphism in patients with multiple sclerosis. J Mol Neurosci 44: 6-11
  • 88 Tajouri L, Martin V, Gasparini C et al. Genetic investigation of methylenetetrahydrofolate reductase (MTHFR) and catechol-O-methyl transferase (COMT) in multiple sclerosis. Brain Res Bull 2006; 69: 327-331
  • 89 Bu XD, Rotter JI. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 1991; 88: 8198-8202
  • 90 Natowicz MR, Bejjani B. Genetic disorders that masquerade as multiple sclerosis. Am J Med Genet 1994; 49: 149-169
  • 91 La Russa A, Cittadella R, Andreoli V et al. Leber’s hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man. Mult Scler 2011; 17: 763-766
  • 92 McClelland CM, Van Stavern GP, Tselis AC. Leber hereditary optic neuropathy mimicking neuromyelitis optica. J Neuroophthalmol 2011; 31: 265-268
  • 93 Dooley JM, Wright BA. Adrenoleukodystrophy mimicking multiple sclerosis. Can J Neurol Sci 1985; 12: 73-74
  • 94 Mosser J, Douar AM, Sarde CO et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993; 361: 726-730
  • 95 Wang Y, Busin R, Reeves C et al. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. Mol Genet Metab 2011; 104: 160-166