The Diagnostic Challenges of Patients with Multiple System Atrophy

Objective: Multiple system atrophy (MSA) is a neurodegenerative disease characterized by a combination of parkinsonism, cerebellar ataxia, and autonomic deficiency symptoms. The purpose of this study is to assess clinical characteristics of patients diagnosed with probable MSA and review diagnostic challenges of MSA in view of the literature. Material and Method: Eleven patients followed-up with probable MSA diagnosis according to the second consensus statement on the diagnosis of MSA criteria were included in the study. Patient files were reviewed retrospectively and the latest clinical examination characteristics were noted. Results: The mean age of eleven MSA patients was found to be 65.36 (±5.32). Six patients were female. The average disease time was 4 years. Ten patients were not diagnosed with MSA by the clinician when they applied with the onset of symptoms. Only one patient was diagnosed with MSA correctly. Seven out of ten patients were diagnosed with Parkinson's Disease, whereas the other three patients were diagnosed with ataxia. Conclusion: A considerable number of patients are not correctly diagnosed with MSA during their lifetime due to difficulties in differentiating it from other diseases. It is necessary to discuss this issue in the light of existing diagnostic criteria.

Multi Sistem Atrofili Hastalarda Tanısal Zorluklar

Amaç: Multi sistem atrofi (MSA); parkinsonizm, serebellar ataksi ve otonomik yetmezlik semptomlarından oluşan bir kombinasyon ile karakterize nörodejeneratif bir hastalıktır. Bu çalışmanın amacı; muhtemel MSA tanısı almış hastaların klinik özelliklerini değerlendirmek ve MSA'nın tanısal zorluklarını literatür eşliğinde gözden geçirmektir. Gereç ve Yöntem: Çalışmaya MSA’nın ikinci konsensüs teşhis kriterlerine göre muhtemel MSA tanısı ile takip edilen 11 hasta dahil edildi. Hasta dosyaları retrospektif olarak incelendi ve en son klinik muayene özellikleri not edildi. Bulgular: Onbir MSA hastasının yaş ortalaması 65.36 (±5.32) bulundu. Altı hasta kadın cinsiyetteydi. Ortalama hastalık süreleri 4 yıldı. On hasta semptomları başladığı zaman ilk başvurduğu klinisyen tarafından MSA tanısı almamıştı. Sadece bir hasta doğru tanı olarak MSA tanısı almıştı. On hastanın yedisi Parkinson Hastalığı tanısı almışken diğer üç hasta ataksi tanısı almıştı. Sonuç: Çoğu MSA hastasının ayırıcı tanıdaki güçlüklerden dolayı yaşam boyu doğru tanı alması geç olmaktadır. Bu problemin yeniden düzenlenecek güncel teşhis kriterlerine göre tartışılması gerekmektedir.

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Stefanova N, Bucke P, Duerr S, Wenning GK. Multiple system atrophy: an update. The Lancet Neurology 2009; 8: 1172-8.

Wenning GK, Ben Shlomo Y, Magalhaes M, Daniel SE, Quinn NP. Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. Brain 1994; 4 : 835-845.

Low PA, Reich SG, Jankovic J, et al. Natural history of multiple system atrophy in the USA: a prospective cohort study. The Lancet Neurology 2015; 7: 710-9.

Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 2008; 9: 670-6.

Koga S, Aoki N, Uitti RJ, et al. When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients. Neurology 2015; 5: 404-2.

Osaki Y, Ben-Shlomo Y, Lees AJ, Wenning GK, Quinn NP. A validation exercise on the new consensus criteria for multiple system atrophy. Movement Disorders 2009; 15: 2272-6.

Kim HJ, Stamelou M, Jeon B. Multiple system atrophy-mimicking conditions: Diagnostic challenges. Parkinsonism & Related Disorders. 2016; 22: 12-5.

Wenning GK, Tison F, Seppi K, et al. Development and validation of the Unified Multiple System Atrophy Rating Scale (UMSARS). Movement Disorders 2004; 12: 1391-402.

Kim HJ, Jeon BS, Jellinger KA. Diagnosis and differential diagnosis of MSA: boundary issues. J Neurol 2015; 8: 1801-13.

Ciolli L, Krismer F, Nicoletti F, Wenning GK. An update on the cerebellar subtype of multiple system atrophy. Cerebellum Ataxias 2014; 10: 1-14.

Klockgether T. Sporadic ataxia with adult onset: classification and diagnostic criteria. The Lancet Neurology 2010; 1: 94-104.

Stamelou M, Hoeglinger GU. Atypical parkin-sonism: an update. Curr Opini Neurol 2013; 4: 401-5.

Gatto E, Rodriguez-Violante M, Cosentino C, et al. Pan-American Consortium of Multiple System Atrophy (PANMSA). A Pan-American multicentre cohort study of multiple system atrophy. J Parkinson's Dis 2014; 4: 693-8.

Kollensperger M, Geser F, Ndayisaba JP, et al. Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry. Movement Disorders 2010; 15: 2604-12.

Senard JM, Rai S, Lapeyre-Mestre M, et al. Prevalence of orthostatic hypotension in Parkin-son's disease. J Neurol, Neurosurg Psychi 1997; 5: 584-9.

Petrovic IN, Ling H, Asi Y, et al. Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catch. Movement Disorders 2012; 9: 1186-90.

Fanciulli A, Wenning GK. Multiple-system atrophy. New Eng J Med 2015; 14: 1375-6.

Vanacore N, Bonifati V, Fabbrini G, et al. Epidemiology of multiple system atrophy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms. Neurol Sci 2001; 1: 97-9.

Jain RS, Sannegowda RB, Agrawal A, Hemrajani D, Jain R, Mathur T. 'Hot cross bun' sign in a case of cerebrotendinous xanthomatosis: a rare neuroimaging observation. BMJ Case Reports 2013; 14: 1-3.

Lee YC, Liu CS, Wu HM, Wang PS, Chang MH, Soong BW. The 'hot cross bun' sign in the patients with spinocerebellar ataxia. Eur J Neurol 2009; 4: 513-6.

Muqit MM, Mort D, Miskiel KA, Shakir RA. "Hot cross bun" sign in a patient with parkinso-nism secondary to presumed vasculitis. J Neurol, Neurosurg Psychi 2001; 4: 565-6.

Meijer FJ, Aerts MB, Abdo WF, et al. Contribution of routine brain MRI to the differential diagnosis of parkinsonism: a 3-year prospective follow-up study. J Neurol 2012; 5: 929-35.

Ito S, Shirai W, Hattori T. Evaluating poste-rolateral linearization of the putaminal margin with magnetic resonance imaging to diagnose the Parkinson variant of multiple system atrophy. Movement Disorders 2007; 4: 578-81.