Diagnostic criteria for Susac syndrome

Kleffner, Ilka; Dörr, Jan; Ringelstein, Marius; Groß, Catharina C.; Böckenfeld, Yvonne; Schwindt, Wolfram; Sundermann, Benedikt; Lohmann, Hubertus; Wersching, Heike; Promesberger, J.; Königsmarck, Natascha von; Alex, Anne F.; Guthoff, Rainer; Frijns, Catharina J.M.; Kappelle, L. Jaap; Jarius, Sven; Wildemann, Brigitte; Aktaş, Orhan; Paul, Friedemann; Wiendl, Heinz; Duning, Thomas

doi:10.1136/jnnp-2016-314295

Cited by 193 publications

(165 citation statements)

References 18 publications

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“…fulfilled the recently published diagnostic criteria for Susac's syndrome (neurological involvement suggested by focal neurological deficits; branch retinal artery occlusion [BRAO] on FA; and sensorineural hearing loss). 10 Other diagnoses of retinal vascular occlusion in our study population included syphilis (positive Treponema pallidum haemagglutination test), masquerades such as leukaemia, and sarcoidosis, among others ( Table 3). The two patients with leukaemia had pre-existing diagnosis based on their systemic features and findings.…”

Section: Resultsmentioning

confidence: 99%

Epidemiology and clinical features of inflammatory retinal vascular occlusions: pooled data from two tertiary‐referral institutions

Agarwal

Karkhur

Aggarwal

et al. 2017

Clinical Exper Ophthalmology

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Section: Resultsmentioning

confidence: 99%

Epidemiology and clinical features of inflammatory retinal vascular occlusions: pooled data from two tertiary‐referral institutions

Agarwal

Karkhur

Aggarwal

et al. 2017

Clinical Exper Ophthalmology

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“…They have been described as loss of neurons, axons, and myelin in gray and white matter with small aggregations of phagocytes and reactive astrocytes, and edema . However, according to the proposed diagnostic criteria for SS, this case can only be classified as “possible” SS due to lack of audiovisual findings and therefore only fulfilling 1/3 of the diagnostic criteria …”

Section: Discussionmentioning

confidence: 99%

A case of disseminated microscopic demyelination with multifocal dystrophic calcification

2020

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We present a 47‐year‐old woman with a 10‐year disease course consisting of episodic confusion, aphasia, psychosis, depression, migrainous headaches and seizures. There was mild elevation of protein levels in the cerebrospinal fluid, progressive cerebral atrophy, and numerous small T1 hypointensities appearing as central “holes” in the corpus callosum on magnetic resonance imaging. She eventually expired due to status epilepticus and subsequent significant respiratory complications. In the central nervous system, there was generalized brain atrophy, and patchy labeling of blood vessels by antibodies to complement component 4d (C4d) and membrane attack complex. Innumerable small patches with loss of cell bodies (neurons and glial cells in gray matter and glial cells in white matter) and demyelination were scattered throughout the brain and spinal cord. There was no cavitation and the passing axons were mostly preserved. Large solid calcified foci were present predominantly in the pons along with disseminated focal calcification involving neuron cell bodies, neurites, and capillaries. Patchy labeling of glial cells and linear structures suggestive of myelin sheaths with C4d antibodies was observed while immunostains for SV40, tau, β‐amyloid, alpha synuclein, p62, and trans‐activation response DNA‐binding protein 43 kDa were negative. Whole‐exome sequencing did not reveal any clinically significant variants. Although the radiological findings are suggestive of Susacʼs syndrome (a rare condition characterized by encephalopathy, hearing loss, and branch retinal artery occlusion), in the absence of audiovisual manifestations, a definitive diagnosis cannot be rendered and therefore, this case may be representing a new entity. Further reports of similar cases are needed for clarification.

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“…39; 69 Pure-tone or speech audiogram may favour low-or mid-tone frequencies, and peripheral vertigo may be confirmed by caloric testing of the vestibular organ, vestibular evoked myogenic potentials, or nystagmography. 39…”

Section: Systemicmentioning

confidence: 99%

A review and update on the ophthalmic implications of Susac syndrome

Heng

Bailey

Lee

et al. 2019

Survey of Ophthalmology

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Susac syndrome is a rare condition presumed to be immune-mediated occlusion of small arterial vasculature principally of the brain, inner ear, and retina. Clinically the syndrome manifests as a pathognomonic triad of encephalopathy, hearing loss, and branch retinal artery occlusion. Early recognition and diagnosis is important as delayed treatment may be profound and result in deafness, blindness, dementia and other neurological deficits. The plethora of imaging technology, including magnetic resonance imaging, retinal fluorescein angiography, optical coherence tomography (OCT) and OCT-angiography allows deeper and more discrete anatomical-physiological correlation of underlying pathology, early diagnosis, and imaging biomarkers for early detection of relapse during follow up. We highlight the current clinical classification of Susac syndrome, available investigations, treatment and care pathways.

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Diagnostic criteria for Susac syndrome

Abstract: We propose diagnostic criteria for Susac syndrome that may help both experts and physicians not familiar with Susac syndrome to make a correct diagnosis and to prevent delayed treatment initiation.

Cited by 193 publications

References 18 publications

Epidemiology and clinical features of inflammatory retinal vascular occlusions: pooled data from two tertiary‐referral institutions

Epidemiology and clinical features of inflammatory retinal vascular occlusions: pooled data from two tertiary‐referral institutions

A case of disseminated microscopic demyelination with multifocal dystrophic calcification

A review and update on the ophthalmic implications of Susac syndrome

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