Skip to main content
  • Moyamoya Disease Can Masquerade as Multiple Sclerosis

    Final Number:

    Leslie J Dorfman, MD, Nancy J Fischbein, MD, Joslyn I Woodard, BS, Omar Choudhri, MD, Teresa E Bell-Stephens, CNRN, Gary K Steinberg, MD, PhD

    Study Design:

    Subject Category:

    Meeting: Congress of Neurological Surgeons 2012 Annual Meeting

    Introduction: Moyamoya disease (MM) is a rare disorder of the cerebral arterial circulation, whereas multiple sclerosis (MS) is a relatively common immune-mediated attack on central myelin. Despite the differences in pathogenesis, the two disorders share some clinical features which can lead to diagnostic confusion: both can affect young adults, cause intermittent neurological symptoms, and show multifocal abnormalities on brain imaging.

    Methods: We retrospectively reviewed case histories from a large series of adults with MM who were treated at our institution, to identify those in whom an initial diagnosis of MS had been made.

    Results: The patients ranged in age from 15 to 42 years at symptom onset (n=11), and 10 were female. All experienced transient neurological symptoms of one kind or another at onset, and headache was present in 7. The initial diagnosis was MS in 9, and MS vs. ADEM in 2. Five received active treatment for their MS diagnosis, including beta-interferon, glatiramer acetate, and corticosteroids. The delay from symptom onset to MM diagnosis ranged from 2 months to 19 years, with a mean and median delay both equal to 4 years. Five have been left with ongoing neurologic symptoms and/or disability that might arguably have been preventable.

    Conclusions: MM can be misdiagnosed as MS, leading to delay in correct treatment. We highlight the clinical and radiological features which allow differentiation of these conditions early in the course, when treatment can have maximum benefit.

    Patient Care: Heightened awareness of moyamoya as a differential diagnostic consideration, and careful analysis of the clinical and radiological features of each case, will help to minimize misdiagnosis and treatment delay of those with clinical symptoms commonly associated with multiple sclerosis.

    Learning Objectives: Participants will be able to identify clinical and radiological characteristics to differentiate moyamoya disease from multiple sclerosis.

    References: 1. Sørensen TL and Ransohoff RM. Etiology and pathogenesis of multiple sclerosis. Semin Neurol 1998;18:287-94. 2. 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. 3. Miller DH, Weinshenker BG, Filippi M, et al. Differential diagnosis of suspected multiple sclerosis: A consensus approach. Multiple Sclerosis 2008;14:1157-1174. 4. Kurtzke JF. Epidemiology and etiology of multiple sclerosis. Phys Med Rehabil Clin N Am 2005;16: 327–349. 5. Scott RM and Smith ER. Moyamoya disease and moyamoya syndrome. N Engl J Med 2009; 360:1226-1237. 6. Smith ER and Scott RM. Moyamoya: Epidemiology, presentation, and diagnosis. Neurosurg Clin N Am 2010;21:543-551. 7. Uchino K, Johnston SC, Becker KJ, et al. Moyamoya disease in Washington state and California. Neurology 2005;65:956-958. 8. Miller D and Compston A. The differential diagnosis of multiple sclerosis. In: Compston A, Confavreux C, Lassman H, et al., eds. McAlpine’s Multiple Sclerosis. 4th Ed. Churchill Livingstone, 2006:389-437. 9. Guzman R, Lee M, Achrol A, et al. Clinical outcome after 450 revascularization procedures for moyamoya disease. J Neurosurg 2009;111:927-935. 10. Yoon HK, Shin HJ and Chang YW. "Ivy sign" in childhood moyamoya disease: depiction on FLAIR and contrast-enhanced T1-weighted MR images. Radiology 2002;223:384-9. 11. McDonald I, Compston A. The symptoms and signs of multiple sclerosis. In: Compston A, Confavreux C, Lassman H, et al., eds. McAlpine’s Multiple Sclerosis. 4th Ed. Churchill Livingstone, 2006:287-346. 12. Putzki N, Pfriem A, LimmrothV, et al. Prevalence of migraine, tension-type headache and trigeminal neuralgia in multiple sclerosis. Eur J Neurol 2009;16:262-267. 13. Zach V, Bezov D, Lipton RB and Ashina S. Headache associated with moyamoya disease: A case story and literature review. J Headache Pain 2010;11:79-82. 14. Jin Q, Noguchi T, Irie H, et al. Assessment of Moyamoya disease with 3.0-T magnetic resonance angiography and magnetic resonance imaging versus conventional angiography. Neurol Med Chir (Tokyo) 2011;51:195-200. 15. Filippi M and Rocca MA. MR Imaging of Multiple Sclerosis. Radiology 2011;259:659-81. 16. Lee M, Zaharchuk G, Guzman R, et al. Quantitative hemodynamic studies in moyamoya disease: A review. Neurosurg Focus 2009;26:1-7.

We use cookies to improve the performance of our site, to analyze the traffic to our site, and to personalize your experience of the site. You can control cookies through your browser settings. Please find more information on the cookies used on our site. Privacy Policy