Creutzfeldt-Jakob Erkrankung versus Anti-NMDA-Rezeptor-Enzephalitis – eine Kasuistik

Zusammenfassung

Die klinische Differenzierung zwischen Autoimmun- und neurodegenerativen Erkrankungen kann im Einzelfall eine diagnostische Herausforderung bedeuten. Die Differentialdiagnostik rasch progredienter neurologischer und kognitiver Symptome schließt entzündliche oder neoplastische Enzephalopathien, zerebrale Tumore oder Vaskulitiden, aber auch seltene neurodegenerative Erkrankungen wie z. B. die Creutzfeldt-Jakob Erkrankung ein. Vor dem Hintergrund des Einsatzes von immunsuppressiven Maßnahmen ist die Detektion eines Autoimmunprozesses in Kombination mit einer Creutzfeldt-Jakob Erkrankung von erheblicher therapeutischer Bedeutung. Die folgende Kasuistik stellt einen differentialdiagnostisch interessanten und seltenen Fall vor, bei dem sowohl eine Autoimmun- als auch Prionerkrankung diskutiert wurde.

Abstract

Clinically differentiating between autoimmune and neurodegenerative disorders can often pose a diagnostic challenge. The differential diagnosis of rapidly progressing neurological and cognitive symptoms includes central nervous system tumours, cerebral vasculitis, and inflammatory, autoimmune, or paraneoplastic encephalopathies. Rarer neurodegenerative diseases such as Creutzfeldt-Jakob disease should also be considered. Detection of treatable causes, such as autoimmune disorders, remains important when potentially occurring in conjunction with Creutzfeldt-Jakob disease. The following report describes a rare case in which autoimmune encephalopathy and prion disease were considered as possible comorbidities.

Schlüsselwörter

Anti-NMDA receptor encephalitis - Creutzfeldt-Jakob disease - Immunotherapy

Key words

Anti-NMDA-Rezeptor-Enzephalitis - immunsuppressive Therapie - Creutzfeldt-Jakob-Erkrankung

• Literatur

• 1 WHO manual for surveillance of human transmissible spongiform encephalpathies, including variant of Creutzfeld-Jakob disease. 2003
• 2 Canas LS, Sudre CH, De Vita E. et al. Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process. Neuroimage Clin 2019; 24: 102051
• 3 Knight R. Prion disease: Brain MRI studies in prion disease. Nat Rev Neurol 2010; 6: 10-11
• 4 Granerod J, Ambrose HE, Davies NW. et al. Causes of encephalitis and differences in their clinical presentations in England: a multicentre, population-based prospective study. Lancet Infect Dis 2010; 10: 835-844
• 5 Irani SR, Bera K, Waters P. et al. N-methyl-D-aspartate antibody encephalitis: temporal progression of clinical and paraclinical observations in a predominantly non-paraneoplastic disorder of both sexes. Brain 2010; 133: 1655-1667
• 6 Vitaliani R, Mason W, Ances B. et al. Paraneoplastic encephalitis, psychiatric symptoms, and hypoventilation in ovarian teratoma. Ann Neurol 2005; 58: 594-604
• 7 Hara M, Martinez-Hernandez E, Arino H. et al. Clinical and pathogenic significance of IgG, IgA, and IgM antibodies against the NMDA receptor. Neurology 2018; 90: e1386-e1394
• 8 Grau-Rivera O, Sanchez-Valle R, Saiz A. et al. Determination of neuronal antibodies in suspected and definite Creutzfeldt-Jakob disease. JAMA Neurol 2014; 71: 74-78
• 9 Chitravas N, Jung RS, Kofskey DM. et al. Treatable neurological disorders misdiagnosed as Creutzfeldt-Jakob disease. Ann Neurol 2011; 70: 437-444
• 10 Forloni G, Iussich S, Awan T. et al. Tetracyclines affect prion infectivity. Proc Natl Acad Sci U S A 2002; 99: 10849-10854
• 11 Forloni G, Roiter I, Tagliavini F. Clinical trials of prion disease therapeutics. Curr Opin Pharmacol 2019; 44: 53-60
• 12 Abu Rumeileh S, Lattanzio F, Stanzani Maserati M. et al. Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and Abeta42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer’s Disease with Emphasis on Atypical Disease Variants. J Alzheimers Dis 2017; 55: 1471-1480
• 13 Otto M, Wiltfang J, Tumani H. et al. Elevated levels of tau-protein in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. Neurosci Lett 1997; 225: 210-212
• 14 Fujita K, Yuasa T, Takahashi Y. et al. Antibodies to N-methyl-D-aspartate glutamate receptors in Creutzfeldt-Jakob disease patients. J Neuroimmunol 2012; 251: 90-93
• 15 Dalmau J, Gleichman AJ, Hughes EG. et al. Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol 2008; 7: 1091-1098
• 16 Titulaer MJ, McCracken L, Gabilondo I. et al. Treatment and prognostic factors for long-term outcome in patients with anti-NMDA receptor encephalitis: an observational cohort study. Lancet Neurol 2013; 12: 157-165
• 17 Dalmau J, Lancaster E, Martinez-Hernandez E. et al. Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis. Lancet Neurol 2011; 10: 63-74
• 18 Gastaldi M, Thouin A, Vincent A. Antibody-Mediated Autoimmune Encephalopathies and Immunotherapies. Neurotherapeutics 2016; 13: 147-162
• 19 Lewicki H, Tishon A, Homann D. et al. T cells infiltrate the brain in murine and human transmissible spongiform encephalopathies. J Virol 2003; 77: 3799-3808
• 20 Sotelo J, Gibbs CJ, Gajdusek DC. Autoantibodies against axonal neurofilaments in patients with Kuru and Creutzfeldt-Jakob disease. Science 1980; 210: 190-193
• 21 Geschwind MD, Tan KM, Lennon VA. et al. Voltage-gated potassium channel autoimmunity mimicking creutzfeldt-jakob disease. Arch Neurol 2008; 65: 1341-1346
• 22 Fujita K, Yuasa T, Watanabe O. et al. Voltage-gated potassium channel complex antibodies in Creutzfeldt-Jakob disease. J Neurol 2012; 259: 2249-2250