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Year : 2020  |  Volume : 2  |  Issue : 1  |  Page : 40

Incomplete susac syndrome

Department of Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal

Date of Submission20-Oct-2020
Date of Acceptance29-Oct-2020
Date of Web Publication10-Dec-2020

Correspondence Address:
Dr. Sara Pereira
Ponte de Mouro – Barbeita, 4950
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/PAJO.PAJO_59_20

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Susac syndrome (SS) is a rare disease affecting the microvasculature of the inner ear, brain, and retina, which usually presents with the triad of hearing loss, encephalopathy, and branch retinal artery occlusions. This condition usually affects young women and treatment consists, in most cases, of immunosuppression. In this article, we report the case of a 35-year-old female patient with an incomplete SS, with visual and hearing manifestations.

Keywords: Encephalopathy, hearing loss, retinal occlusions, Susac syndrome

How to cite this article:
Pereira S, Vieira B, Maio T, Sampaio F. Incomplete susac syndrome. Pan Am J Ophthalmol 2020;2:40

How to cite this URL:
Pereira S, Vieira B, Maio T, Sampaio F. Incomplete susac syndrome. Pan Am J Ophthalmol [serial online] 2020 [cited 2021 Nov 27];2:40. Available from: https://www.thepajo.org/text.asp?2020/2/1/40/303006

  Introduction Top

Susac syndrome (SS) is a rare disease characterized by occlusions of the microvasculature of brain, retina, and inner hear, which leads to the development of hearing loss, encephalopathy, and visual impairment from branch retinal artery occlusion (BRAO). This clinical triad is the hallmark and classical presentation of this syndrome, which typically affects young women.[1] Disease incidence and prevalence are unknown, such as pathophysiology, with a role for autoimmunity being proposed in recent years.

Diagnosis is based on clinical presentation (clinicians must be aware that the full clinical triad may not be present) and characteristic findings on retinal fluorescein angiography (FA), brain magnetic resonance imaging (MRI), and audiometry.[2],[3]

The disease usually presents a self-limited course with varying degrees of disability and sequelae, depending on the initial presentation. Immunosuppressing and immunomodulating agents are the current mainstay of treatment.[4]

  Case Report Top

A 35-year-old female patient presented to our ophthalmology clinic complaining of a sudden “black spot” on her right eye. Three weeks before this episode, the patient experienced sudden right hearing loss, without any improvement with hyperbaric oxygen therapy. Audiometry demonstrated right low-frequency neurosensorial hearing loss [Figure 1]. Regarding past medical history, the patient reported a healthy pregnancy with a natural delivery 6 months before and postpartum depression.
Figure 1: Audiometry with right low-frequency neurosensorial hearing loss

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On examination, the best corrected visual acuity was 20/20 on each eye with a good pupillary response. Slit lamp examination and left eye fundus were normal. The right-eye fundus presented areas of blood flow interruption. Goldmann perimetry and brain computed tomography were normal.

Three days later, the patient reported a new scotoma on her left eye and paresthesia of her left fingers. Ophthalmological and neurological examination did not reveal any change, except for global hyperreflexia. The patient underwent lumbar puncture with cerebrospinal fluid (CSF) analysis and brain MRI, which came out to be normal. Retinal FA revealed both arteriolar occlusions and areas of arterial wall hyperfluorescence, which are typical angiographic signs on SS [Figure 2] and [Figure 3].
Figure 2: Fluorescein angiography depicting branch retinal arteriolar occlusion

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Figure 3: Fluorescein angiography with arterial wall hyperfluorescence

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With the confirmation of retinal and cochlear involvement, a diagnosis of incomplete SS was made. Treatment with corticosteroids was recommended, but the patient refused and was maintained on surveillance with regular follow-up visits.

Eleven months after the initial episode of hearing loss and without treatment, the patient showed no new symptoms and her physical examination findings were normal, except for right hearing loss.

  Discussion Top

We report the case of an incomplete SS, with cochlear and retinal impairment, in association with postpartum period. Neurological involvement was excluded through normal brain MRI and CSF analysis. Although the patient lacked the classical clinical triad, she did present BRAOs and arterial wall hyperfluorescence on retinal FA, a very specific finding of ophthalmological involvement in SS.[2] Aside from the ophthalmological findings, our patient also presented neurosensorial hearing loss, making the diagnosis of SS more likely. Our case heralds a good visual prognosis, as the patient showed no residual ophthalmological sequelae. Hearing loss, however, sustained. Unlike ophthalmological and neurological symptoms, hearing loss is frequently irreversible in this context.[1]

Pregnancy has been associated with SS in multiple case series and reports, and it has been postulated that hormonal changes during pregnancy induce autoantibody production, which can worsen or unveil autoimmune conditions.[5],[6]

SS has a fluctuating course and it is commonly self-limited. It is likely that our case represents a recurrent BRAO subset of SS with a monocyclic course. This subset of disease is less frequent but also less severe. These patients do not have clinical evidence of brain disease involvement, but BRAOs may recur over several years.[7]

Recurrence of disease can occur as new BRAOs, but it is more common as isolated asymptomatic vascular leakage.[6] Given the chance of late disease relapse, a close follow-up is required for these patients.

SS is a rare entity which is frequently underdiagnosed or misdiagnosed. Clinicians, especially ophthalmologists, neurologists, and otolaryngologists, should be familiar with the disease and the various clinical presentations, as incomplete disease presentation can delay appropriate diagnosis.

Early recognition and treatment are essential for good disease management and for preventing disability.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Kleffner I, Duning T, Lohmann H, Deppe M, Basel T, Promesberger J, et al. A brief review of Susac syndrome. J Neurol Sci 2012;322:35-40.  Back to cited text no. 1
Egan RA. Diagnostic criteria and treatment algorithm for Susac syndrome. J Neuroophthalmol 2019;39:60-7.  Back to cited text no. 2
Pereira S, Vieira B, Maio T, Moreira J, Sampaio F. Susac's Syndrome: An Updated Review, Neuro-Ophthalmology, 2020:44:355-60. DOI: 10.1080/01658107.2020.1748062.  Back to cited text no. 3
Rennebohm RM, Asdaghi N, Srivastava S, Gertner E. Guidelines for treatment of Susac syndrome-An update. Int J Stroke 2020;15:484-94.  Back to cited text no. 4
Ioannides ZA, Airey C, Fagermo N, Blum S, McCombe PA, Henderson RD. Susac syndrome and multifocal motor neuropathy first manifesting in pregnancy. Aust N Z J Obstet Gynaecol 2013;53:314-7.  Back to cited text no. 5
Aubart-Cohen F, Klein I, Alexandra JF, Bodaghi B, Doan S, Fardeau C, et al. Long-term outcome in Susac syndrome. Medicine (Baltimore) 2007;86:93-102.  Back to cited text no. 6
Rennebohm R, Susac JO, Egan RA, Daroff RB. Susac's Syndrome-update. J Neurol Sci 2010;299:86-91.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3]


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