Susac Syndrome: an uncommon cause of impaired vision

A 35-year-old Caucasian woman presented an abrupt onset of bilateral impaired vision, and arrived to our attention two weeks later. She had a previous episode of mild dizziness. She underwent a fluorescein angiography showing branch retinal artery occlusions and a brain magnetic resonance imaging (MRI) revealing several supraand infratentorial FLAIR-hyperintense white matter lesions, two with contrast enhancement. Thrombophilic, autoimmune and infective (including Human Immunodeficiency Virus, Borrelia burgdorferi, Hepatitis B Virus, Hepatitis C Virus, Herpes Simplex Virus 1-2, Varicella Zoster Virus) screening was negative. Cerebrospinal fluid analysis showed intrathecal IgG synthesis. We suspected a Primary Central Nervous System Vasculitis, and intravenous steroids were started. Three months later a second brain MRI showed seven new lesions without contrast enhancement, and she revealed a cognitive impairment and bilateral hearing loss. Reviewing the clinical history and MRI, she fulfilled diagnostic criteria for Susac syndrome. She had two cycles of cyclophosphamide, and recovered in 6 months and then remained stable with metotrexate.

P.080 Cognitive Profile, Disease Characteristics, and Neuroimaging Findings in Susac Syndrome: A Case Series of Seven Participants from British Columbia

Background: Susac Syndrome (SuS) is a rare autoimmune disorder of the cerebral, retinal, and inner ear microvasculature. One of the cardinal manifestations of central nervous system (CNS) involvement is encephalopathy, however the cognitive profile in SuS is poorly characterized in the literature. Methods: In this cross-sectional case series of seven participants diagnosed with Susac Syndrome in remission in British Columbia, we use a battery of neuropsychological testing, subjective disease scores, and objective markers of disease severity to characterize the affected cognitive domains and determine if any disease characteristics predict neuropsychological performance. We also compare this battery of tests to neuroimaging markers to determine if correlation exists between radiographic markers of CNS disease and clinical evaluation of disease severity. Results: There were a variety of cognitive deficits, with memory and language dysfunction being the most common. Despite the variability, performance on some neuropsychological tests (MoCA) correlated to markers of functional disability (EDSS). Additionally, MoCA and EDSS scores correlated with neuroimaging findings of both corpus callosum and white matter changes. Finally, psychiatric scores correlated with participant reported scores of disease severity. Conclusions: There is a relationship between cognitive deficits, subjective and objective disease disability, and neuroimaging findings in Susac Syndrome.

A Young Man With Visual Field Loss, Decreased Hearing, and Confusion

A 27-year-old man noted imbalance and staggering when walking. Vertigo, nausea, vomiting, and mild fever developed. This was presumed to be due to an inner ear infection, and antibiotics were prescribed. He began experiencing intermittent left face and arm numbness, bilateral hearing loss and tinnitus. Audiography indicated low-frequency hearing loss in both ears, left worse than right. He reported headaches and neck stiffness, and his family noticed that he was moody, easily aggravated, and confused, with slow mentation. Magnetic resonance imaging showed patchy, nodular, leptomeningeal enhancement involving both cerebral hemispheres and the posterior fossa, with scattered hyperintense T2 signal changes of the internal capsule and prominent abnormal signal changes in the corpus callosum. Cerebrospinal fluid analysis was remarkable for a markedly increased protein concentration and white blood cells. Eye examination showed 20/20 vision in both eyes with a superior visual field defect in the right eye. Retinal whitening was noted in the vascular distribution of the inferotemporal arcade. Intravenous fluorescein angiography showed delayed filling in this region consistent with a branch retinal artery occlusion and scattered areas of arteriolar wall hyperfluorescence. A diagnosis of Susac syndrome was made on the basis of the branch retinal artery occlusion, magnetic resonance imaging findings, and hearing deficit. Intravenous methylprednisolone was given, followed oral prednisone, which resulted in substantial improvement in headaches and cognition. Cyclophosphamide was also started at the same time as intravenous methylprednisolone. A new visual field defect developed due to a branch retinal artery occlusion in the left eye, which prompted initiation of intravenous immunoglobulin and transition from cyclophosphamide to rituximab. He had no recurrent branch retinal artery occlusions or other relapses of his underlying Susac syndrome on this treatment regimen. Susac syndrome was initially described as a microangiopathy of the brain and retina. It is an idiopathic autoimmune disorder that primarily affects the brain, eye, and inner ear.

Susac syndrome with cognitive impairment - case report of 31-year-old woman

Introduction: Susac syndrome (SuS) is a rare immune-mediated disease caused by occlusions of microvessels in the brain, retina and inner ear. It is characterized by the clinical triad of encephalopathy, visual disturbances and hearing loss. The diagnosis of SuS is based mainly on the clinical symptoms and the supporting tests in which characteristic changes occur in the MRI. Case report: Here, we present a case of a patient with possible SuS with psychiatric symptoms. A 31-year-old woman was admitted to the Department of Psychiatry due to deteriorating mental health for several weeks manifested as a negative mood and suicidal thoughts. During hospitalization, a neurological consultation was conducted, in which the patient was identified as conscious, psychomotor sluggish, with impaired verbal contact and persistent hearing and vision impairment. Cross-sectional assessment of cognitive functions revealed that the patient had a generalized syndrome of neuropsychological deficits, which confirms the diagnosis of dementia. Discussion: This case summary provides an example of a woman diagnosed with SuS manifested as a cognitive impairment with associated vision and hearing deterioration. It is worth emphasizing the fact that such presentation of the triad of at disease onset is rare. The characteristics of the organic changes in the brain described in the MRI probably explain the symptoms described in that case. The prognosis of SuS depends on early diagnosis and treatment. Conclusions: A diagnosis of SuS should always be considered in the presence of nonspecific neuropsychiatric symptoms and progressive multifocal neurological symptoms, hearing loss, and visual impairment. An important fact is that the typical triad of SuS symptoms in most cases does not occur simultaneously, which makes the diagnostic process very difficult and may lead to misdiagnosis.