Misdiagnoses and delay of diagnoses in Moyamoya angiopathy—a large Caucasian case series
The lacking awareness of healthcare providers bears the risk of delayed or false diagnoses in rare diseases. No systematic data about misdiagnoses of Moyamoya angiopathy (MMA) are available.
To evaluate the rate and pattern of missed diagnoses in MMA.
Retrospective analysis of a consecutive case series from a single German referral center. Rates of missed or delayed diagnoses in Caucasian MMA patients were calculated based on discharge letters from other hospitals and systematic chart review.
Out of 192 Caucasian patients eventually diagnosed with MMA at our center, an initial misdiagnosis was identified in 119 patients (62%). The time between onset and diagnosis was 1 year in 24 patients, 2 years in 23 patients, 3 years in 10 patients, and > 3 years in 49 patients (mean 5.28, median 3, standard deviation 5.11, and range 4–26 years). The most common misdiagnoses were cerebral vasculitis (31%), etiologically ill-defined stroke diagnoses (30.2%), and MS (3.6%).
This is the first systematic report which shows that patients with MMA are at high risk to be falsely diagnosed and treated. Depiction of typical vascular abnormalities in angiopathy is essential. Normal CSF cell counts, negative oligoclonal bands, and lack of infratentorial lesions as well as gadolinium-positive T1 lesions on MRI may be red flags differentiating this vasculopathy from vasculitis and MS.
KeywordsMoyamoya Misdiagnosis Vasculitis Multiple sclerosis
This work is dedicated to our deceased neuroradiological colleague Dr. Petra Schooß (1969–2016). The authors are thankful for the cooperation with the Department of Radiology and Neuroradiology, Alfried Krupp Hospital, Essen, Germany.
They did not receive funding for preparation of the manuscript.
Compliance with ethical standards
Conflicts of interest
Authors report no conflicting interests.
This study was approved by local ethical committee.
- 5.Calviere L, Ssi Yan Kai G, Catalaa I, Marlats F, Bonneville F, Larrue V (2012) Executive dysfunction in adults with moyamoya disease is associated with increased diffusion in frontal white matter. J Neurol Neurosurg Psychiatry 83(6):591–593. https://doi.org/10.1136/jnnp-2011-301388 CrossRefGoogle Scholar
- 6.Health Labour Sciences Research Grant for Research on Measures for Infractable D (2012) Treatment of Spontaneous Occlusion of the Circle of W. Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis). Neurol Med Chir (Tokyo) 52(5):245–266CrossRefGoogle Scholar
- 18.Kraemer M, Karakaya R, Matsushige T, Graf J, Albrecht P, Hartung HP, Berlit P, Laumer R, Diesner F (2018) Efficacy of STA-MCA bypass surgery in moyamoya angiopathy: long-term follow-up of the Caucasian Krupp Hospital cohort with 81 procedures. J Neurol 265(10):2425–2433. https://doi.org/10.1007/s00415-018-9031-4 CrossRefGoogle Scholar
- 19.Kraemer M, Sassen J, Karakaya R, Schwitalla JC, Graf J, Albrecht P, Hartung HP, Diehl RR, Berlit P, Laumer R, Diesner F (2018) Moyamoya angiopathy: early postoperative course within 3 months after STA-MCA-bypass surgery in Europe-a retrospective analysis of 64 procedures. J Neurol 265(10):2370–2378. https://doi.org/10.1007/s00415-018-8997-2 CrossRefGoogle Scholar
- 20.Yamada S, Oki K, Itoh Y, Kuroda S, Houkin K, Tominaga T, Miyamoto S, Hashimoto N, Suzuki N, Research Committee on Spontaneous Occlusion of Circle of W (2016) Effects of surgery and antiplatelet therapy in ten-year follow-up from the registry study of research committee on Moyamoya disease in Japan. J Stroke Cerebrovasc Dis 25(2):340–349. https://doi.org/10.1016/j.jstrokecerebrovasdis.2015.10.003 CrossRefGoogle Scholar
- 21.Becker J, Horn PA, Keyvani K, Metz I, Wegner C, Bruck W, Heinemann FM, Schwitalla JC, Berlit P, Kraemer M (2017) Primary central nervous system vasculitis and its mimicking diseases—clinical features, outcome, comorbidities and diagnostic results—a case control study. Clin Neurol Neurosurg 156:48–54. https://doi.org/10.1016/j.clineuro.2017.03.006 CrossRefGoogle Scholar
- 25.Fukui M (1997) Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis (‘moyamoya’ disease). Research committee on spontaneous occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan. Clin Neurol Neurosurg 99(Suppl 2):S238–S240CrossRefGoogle Scholar
- 26.Herve D, Kossorotoff M, Bresson D, Blauwblomme T, Carneiro M, Touze E, Proust F, Desguerre I, Alamowitch S, Bleton JP, Borsali A, Brissaud E, Brunelle F, Calviere L, Chevignard M, Geffroy-Greco G, Faesch S, Habert MO, De Larocque H, Meyer P, Reyes S, Thines L, Tournier-Lasserve E, Chabriat H (2018) French clinical practice guidelines for Moyamoya angiopathy. Rev Neurol (Paris) 174(5):292–303. https://doi.org/10.1016/j.neurol.2017.12.002 CrossRefGoogle Scholar
- 27.Garg N, Reddel SW, Miller DH, Chataway J, Riminton DS, Barnett Y, Masters L, Barnett MH, Hardy TA (2015) The corpus callosum in the diagnosis of multiple sclerosis and other CNS demyelinating and inflammatory diseases. J Neurol Neurosurg Psychiatry 86(12):1374–1382. https://doi.org/10.1136/jnnp-2014-309649 Google Scholar
- 32.Thompson AJ, Banwell BL, Barkhof F, Carroll WM, Coetzee T, Comi G, Correale J, Fazekas F, Filippi M, Freedman MS, Fujihara K, Galetta SL, Hartung HP, Kappos L, Lublin FD, Marrie RA, Miller AE, Miller DH, Montalban X, Mowry EM, Sorensen PS, Tintore M, Traboulsee AL, Trojano M, Uitdehaag BMJ, Vukusic S, Waubant E, Weinshenker BG, Reingold SC, Cohen JA (2018) Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria. Lancet Neurol 17(2):162–173. https://doi.org/10.1016/S1474-4422(17)30470-2 CrossRefGoogle Scholar
- 34.Solomon AJ, Bourdette DN, Cross AH, Applebee A, Skidd PM, Howard DB, Spain RI, Cameron MH, Kim E, Mass MK, Yadav V, Whitham RH, Longbrake EE, Naismith RT, Wu GF, Parks BJ, Wingerchuk DM, Rabin BL, Toledano M, Tobin WO, Kantarci OH, Carter JL, Keegan BM, Weinshenker BG (2016) The contemporary spectrum of multiple sclerosis misdiagnosis: a multicenter study. Neurology 87(13):1393–1399. https://doi.org/10.1212/WNL.0000000000003152 CrossRefGoogle Scholar
- 35.Miller DH, Weinshenker BG, Filippi M, Banwell BL, Cohen JA, Freedman MS, Galetta SL, Hutchinson M, Johnson RT, Kappos L, Kira J, Lublin FD, McFarland HF, Montalban X, Panitch H, Richert JR, Reingold SC, Polman CH (2008) Differential diagnosis of suspected multiple sclerosis: a consensus approach. Mult Scler 14(9):1157–1174. https://doi.org/10.1177/1352458508096878 CrossRefGoogle Scholar
- 36.Becker J, Geffken M, Diehl R, Berlit P, Kraemer M (2017) Choosing wisely? Multiple sclerosis and laboratory screening for autoimmune differential diagnoses: do the guideline recommendations of the german society of neurology make sense?. Neurol Int Open. https://doi.org/10.1055/s-0043-115429 Google Scholar