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A Woman in Her 40s With Transient Neurological Symptoms, Migraine Headaches, and Hearing Loss

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 42-year-old white woman with a history of episodic migraine with visual aura presented for evaluation of transient right upper extremity weakness and word-finding difficulty associated with headache. She admitted to having developed new intermittent vertigo and more frequent and severe throbbing migraine with transient blurry vision and nonpulsatile tinnitus several months prior. She had recently developed hearing loss with a robotic quality of auditory perception. She denied mouth or genital ulcers. A neurologic examination revealed diminished hearing to a finger rub on the right side. Fundoscopy showed several segmental retinal arterial plaques, with the right side worse than the left. A brain magnetic resonance image (MRI) with gadolinium revealed multiple white-matter lesions that were hyperintense on diffusion-weighted imaging (DWI), including some with enhancement, as well as a small DWI-negative lesion in the left thalamus and corpus callosum that was hyperintense on T2/fluid-attenuated inversion recovery magnetic resonance imaging (FLAIR; Figure 1). An MRI of the spine with gadolinium did not reveal a signal abnormality in the spinal cord. Infectious, rheumatologic, and hypercoaguable test results were negative. A lumbar puncture revealed a white blood cell count of 8 cells/μL (normal range, 0-5 cells/μL; to convert to cells × 109/L, multiply by 0.001) with 78% lymphocytes and 22% monocytes (to calculate these as proportions of 1.0, multiply by 0.01), and a protein level of 0.067 g/dL (normal range, 0.015-0.045 g/dL; to convert to grams per liter, multiply by 10). Cerebrospinal fluid (CSF) glucose and IgG index test results were normal, with culture and oligoclonal bands negative. An audiogram revealed bilateral sensorineural hearing loss, with the right side worse than the left. Retinal fluorescein angiography was obtained.

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C. Susac syndrome

Susac syndrome is a rare disorder caused by occlusions of microvessels in the brain, retina, and inner ear, with an autoimmune causative mechanism presumed based on signs of inflammation in biopsies of the brain and CSF testing, as well as contrast enhancement on retinal and brain imaging and case reports of good response to immunosuppressive and immunomodulatory therapies.1 John O. Susac, MD, described the initial case in the mid-1970s after he encountered a young woman with a previously unreported triad of encephalopathy, branch retinal artery occlusions, and deafness.2 Since then, more than 300 cases of Susac syndrome have been reported in the literature worldwide with female individuals (aged 20-40 years) affected more frequently than male individuals.1 The prevalence of this disease may not be as rare as once thought, given that the full clinical triad rarely exists at time of initial presentation and many cases are often being misdiagnosed as multiple sclerosis.36

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Article Information

Corresponding Author: David A. Roshal, DO, Jefferson Health, 435 Hurffville Cross-Keys Rd, Washington Township, NJ 08012 (david.roshal@jefferson.edu).

Published Online: March 11, 2019. doi:10.1001/jamaneurol.2019.0186

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
1.
Dörr  J, Krautwald  S, Wildemann  B,  et al.  Characteristics of Susac syndrome: a review of all reported cases.  Nat Rev Neurol. 2013;9(6):307-316. doi:10.1038/nrneurol.2013.82PubMedGoogle ScholarCrossref
2.
Rennebohm  R, Daroff  RB.  In memoriam: John O. Susac, MD (1940–2012).  Neurology. 2012;79(3):211-212. doi:10.1212/WNL.0b013e31825fe142PubMedGoogle ScholarCrossref
3.
Rennebohm  R, Susac  JO, Egan  RA, Daroff  RB.  Susac’s Syndrome—update.  J Neurol Sci. 2010;299(1-2):86-91. doi:10.1016/j.jns.2010.08.032PubMedGoogle ScholarCrossref
4.
O’Halloran  HS, Pearson  PA, Lee  WB, Susac  JO, Berger  JR.  Microangiopathy of the brain, retina, and cochlea (Susac syndrome): a report of five cases and a review of the literature.  Ophthalmology. 1998;105(6):1038-1044. doi:10.1016/S0161-6420(98)96005-5PubMedGoogle ScholarCrossref
5.
Susac  JO.  Susac’s syndrome: the triad of microangiopathy of the brain and retina with hearing loss in young women.  Neurology. 1994;44(4):591-593. doi:10.1212/WNL.44.4.591PubMedGoogle ScholarCrossref
6.
Rennebohm  RM, Egan  RA, Susac  JO.  Treatment of Susac’s syndrome.  Curr Treat Options Neurol. 2008;10(1):67-74. doi:10.1007/s11940-008-0008-yPubMedGoogle ScholarCrossref
7.
Vishnevskia-Dai  V, Chapman  J, Sheinfeld  R,  et al.  Susac syndrome: clinical characteristics, clinical classification, and long-term prognosis.  Medicine (Baltimore). 2016;95(43):e5223. doi:10.1097/MD.0000000000005223PubMedGoogle ScholarCrossref
8.
Nazari  F, Azimi  A, Abdi  S.  What is Susac syndrome? a brief review of articles.  Iran J Neurol. 2014;13(4):209-214.PubMedGoogle Scholar
9.
Thompson  AJ, Banwell  BL, Barkhof  F,  et al.  Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria.  Lancet Neurol. 2018;17(2):162-173. doi:10.1016/S1474-4422(17)30470-2PubMedGoogle ScholarCrossref
10.
Davatchi  F.  Diagnosis/classification criteria for Behcet’s disease.  Patholog Res Int. 2012;2012:607921.PubMedGoogle Scholar
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