Primary central nervous system vasculitis (PCNSV) is an angiitis localized to the central nervous system (CNS), with various manifestations and no specific biomarkers. Herein, we report a case of PCNSV that presented with an unusual course. A 40-year-old Japanese male developed inner ear symptoms and visual field disturbances. Later, at 42 years of age, the patient developed right hemiparesis and was diagnosed with multiple sclerosis (MS). He received methylprednisolone pulse therapy, which improved his symptoms and resolved most brain lesions. Subsequently, he did not visit the hospital for 13 years, during which time he experienced no relapse. At 55 years of age, he presented to our hospital with fatigue and dizziness. Susac syndrome was suspected because of sensorineural hearing loss and snowball lesions in the corpus callosum. Some of the brain lesions resolved spontaneously. A biopsy was performed on a right frontal lobe lesion, which revealed vasculitis with fibrinoid necrosis, no demyelinating lesions, no amyloid positivity, and no infiltration of atypical lymphocytes. With no evidence of vasculitis in other organs, the patient was diagnosed with PCNSV. The patient was treated with methylprednisolone pulse therapy, followed by oral prednisolone (1 mg/kg/day). The prednisolone was tapered off, and no relapse of symptoms or new lesions on magnetic resonance imaging (MRI) were noted. As observed in this case, even in a scenario suggestive of Susac syndrome or multiple sclerosis, PCNSV should be considered a differential diagnosis and confirmed via brain biopsy.

UNASSIGNED: We reported a pediatric case of SuS with a complete diagnosis triad. Although the optimal treatment of SS is unclear, prompt diagnosis and treatment can result in almost a complete recovery.
UNASSIGNED: Susac\'s syndrome (SuS) is a rare, autoimmune disorder known as a typical triad of sensorineural hearing impairment, central nervous system involvement, and multiple branch retinal artery occlusions (BRAOs). It is usually misdiagnosed or underdiagnosed because its symptoms may vary at the presentation time. Diagnosis can be established based on neuroimaging, ophthalmic examination, and audiometry, which match the clinical symptoms. SuS is very limited and rare in childhood and can be easily misdiagnosed with multiple sclerosis or acute disseminated encephalomyelitis. We report a 16-year-old boy patient with a completed SuS triad including BRAO in fluorescent angiography (FA), mild to moderate sensory neural hearing loss (SNHL), \"Snowball lesions,\" and \"pearl of string\" signs in magnetic resonance imaging (MRI). Successful treatment was achieved with methylprednisolone, rituximab, azathioprine, cyclophosphamide, and plasmapheresis. SuS is a rare disorder, which rarely presents with a full triad and all the manifestations may not be present at the onset of the disease, leading to misdiagnosis or underdiagnosis. Our case is exceptional because he was in a pediatric age and presented with a complete triad of SuS which adds to the rarity of this disease. Although optimal treatment of SuS is unclear, our treatment regimen resulted in almost a complete recovery.

Susac syndrome (SuS) presents with encephalopathy, visual disturbances, and hearing loss from immune-mediated microvascular occlusion. While acute SuS is well-described, long-term cognitive outcomes with current treatments are underknown. We assessed ten SuS patients treated in accordance with evidence-based guidelines using immunotherapies targeting humoral and cell-mediated pathways. Patients were followed for a median 3.6 years. Initially, cognition inversely correlated with corpus callosum lesions on MRI. All reported cognitive improvement; 5/10 patients had residual deficits in visual attention and executive function. Early, aggressive treatment was associated with good outcomes; extensive early corpus callosum lesions may identify patients at-risk of persistent cognitive deficits.

Susac syndrome is a rare immune-mediated endotheliopathy affecting the microvasculature. It presents three main symptoms: encephalopathy, branch retinal artery occlusions, and hearing loss . Here we present a new case report focusing on the evolution of the cognitive profile. The patient underwent two neuropsychological examinations. The first, one month after the onset of the symptomatology, highlighted a prevalent involvement of verbal executive functions. The second, conducted six months later, revealed a global improvement in most previously deficient areas, although with the persistence of a difficulty in cognitive estimation. . This case illustrates the importance of a comprehensive analysis of patients with Susac syndrome to appreciate the whole range of cognitive deficits and reliably evaluate symptom evolution.

Susac syndrome is a rare and enigmatic complex neurological disorder primarily affecting small blood vessels in the brain, retina, and inner ear. Diagnosing Susac syndrome may be extremely challenging not only due to its rarity, but also due to the variability of its clinical presentation. This paper describes two vastly different cases-one with mild symptoms and good response to therapy, the other with severe, complicated course, relapses and long-term sequelae despite multiple therapeutic interventions. Building upon the available guidelines, we highlight the utility of black blood MRI in this disease and provide a comprehensive review of available clinical experience in clinical presentation, diagnosis and therapy of this disease. Despite its rarity, the awareness of Susac syndrome may be of uttermost importance since it ultimately is a treatable condition. If diagnosed in a timely manner, early intervention can substantially improve the outcomes of our patients.

Susac syndrome is a relatively uncommon autoimmune disease that predominantly affects young females, with the highest incidence between the third and fourth decade of life, presenting classically with encephalopathy, various CNS dysfunctions, visual impairment due to retinal artery occlusion, and hearing loss. Despite treatment options, such as glucocorticoid steroids, intravenous immunoglobulin, methotrexate, azathioprine, mycophenolate mofetil, or rituximab, some patients with Susac syndrome remain refractory to therapy. We present a case report of a 38-year-old female with refractory Susac syndrome who was treated successfully with plasmapheresis.

Susac syndrome (SS) is a rare microangiopathy affecting the precapillary arterioles of the brain, inner ear, and retina. We present a novel case of SS, presenting as acute incomplete bitemporal field loss in addition to temporally spaced neurological and vestibulocochlear symptoms. A 39-year-old female was referred to the ophthalmology clinic with acute incomplete bitemporal hemianopia and worsening hemicrania. History revealed progressive hearing loss, subjective short-term memory impairment, and vertigo temporally spaced over the preceding 12 months. Magnetic resonance brain revealed multiple small colosal lesions and liner \'spoke\' lesions. Fundus fluorescein angiography revealed multiple branch retinal artery occlusions in the right eye. Audiometry confirmed bilateral sensorineural hearing loss. Treatment included intravenous corticosteroids and rituximab. This case highlights the importance of early consideration and evaluation of SS in individuals presenting with atypical ocular disturbances, where no clear cause can be elicited, in order to limit the sequelae of disease.

UNASSIGNED: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative illness with characteristic brain magnetic resonance imaging (MRI) manifestations: diffuse symmetric white-matter hyperintensities in lateral cerebral ventricle areas in fluid-attenuated inversion recovery (FLAIR) and high-intensity signals along the corticomedullary junction of the frontal-parietal-temporal lobes in diffusion weighted imaging (DWI). Here, we report a case of adult-onset NIID who was misdiagnosed with Susac syndrome (SS) due to unusual corpus callosum imaging findings.
UNASSIGNED: A 39-year-old man presented with chronic headache, blurred vision, tinnitus, and numbness in the hands as initial symptoms, accompanied by cognitive slowing and decreased memory. Brain MRI revealed round hypointense lesions on T1-weighted imaging (T1WI) and hyperintense lesions on T2WI/FLAIR/DWI in the genu and splenium of the corpus callosum. An initial diagnosis of SS was made based on the presence of the SS-typical symptoms and SS-characteristic radiology changes. Furthermore, the patient\'s symptoms improved upon completion of a combined pharmacotherapy plan. However, no significant changes were evident 18 months after the brain MRI scan. Eventually, the patient was then diagnosed with NIID based on a skin biopsy and detection of expanded GGC (guanine, guanine, cytosine) repeats in the NOTCH2NLC gene.
UNASSIGNED: The present NIID case in which there was simultaneous onset of altered nervous and visual system functioning and atypical imaging findings, the atypical imaging findings may reflect an initial change of NIID leukoencephalopathy.

UNASSIGNED: Susac syndrome (SS) is a rare immune-mediated vasculitis affecting retina, inner ear and brain. Assessment of central nervous system (CNS) involvement is currently based on standard brain magnetic resonance imaging (MRI) sequences. Accuracy of three dimensional (3D)-vessel wall imaging (VWI) was compared to standard sequences and contrast-enhanced-3D T2-fluid attenuated inversion recovery (CE-FLAIR) to assess CNS disease activity in two cases of definite SS.
UNASSIGNED: Brain MRI scan and retinal fluorescein angiogram (RFA) were performed at disease onset and at 1, 3, and 6 months after induction therapy start. CE-FLAIR and VWI based on 3D black-blood proton density weighted (PDW) with and without gadolinium were added to standard sequences on a 3 Tesla MRI scanner.
UNASSIGNED: Contrast enhanced-VWI (CE-VWI) detected an abnormal diffuse leptomeningeal enhancement (LME) in both cases at onset and during follow-up. Pathological enhancement on CE-VWI persisted at 6-month brain MRI, despite absence of new lesions and disappearance of LME on CE-FLAIR. Follow-up RFA revealed new arterial wall hyperfluorescence in both cases.
UNASSIGNED: VWI may represent a useful tool for diagnosing and monitoring CNS disease activity in SS patients, as confirmed by concordance with RFA, leading treatment\'s choice and timing. Moreover, CE-VWI seemed at least as sensitive as CE-FLAIR in detecting LME, possibly being superior to the latter in posterior fossa. LME remission might be not accurate in predicting suppression of CNS inflammation in SS.

BACKGROUND: Susac syndrome is a vasculopathy, resulting in the classic triad of branch retinal artery occlusion (BRAO), inner ear ischemia, and brain ischemia. In this retrospective chart review, we characterize fluorescein angiography (FA) findings and other ancillary studies in Susac syndrome, including the appearance of persistent disease activity and the occurrence of new subclinical disease on FA.
METHODS: This multicenter, retrospective case series was institutional review board-approved and included patients with the complete triad of Susac syndrome evaluated with FA, contrasted MRI of the brain, and audiometry from 2010 to 2020. The medical records were reviewed for these ancillary tests, along with demographics, symptoms, visual acuity, visual field defects, and findings on fundoscopy. Clinical relapse was defined as any objective evidence of disease activity during the follow-up period after initial induction of clinical quiescence. The main outcome measure was the sensitivity of ancillary testing, including FA, MRI, and audiometry, to detect relapse.
RESULTS: Twenty of the 31 (64%) patients had the complete triad of brain, retinal, and vestibulocochlear involvement from Susac syndrome and were included. Median age at diagnosis was 43.5 years (range 21-63), and 14 (70%) were women. Hearing loss occurred in 20 (100%), encephalopathy in 13 (65%), vertigo in 15 (75%), and headaches in 19 (95%) throughout the course of follow-up. Median visual acuity at both onset and final visit was 20/20 in both eyes. Seventeen (85%) had BRAO at baseline, and 10 (50%) experienced subsequent BRAO during follow-up. FA revealed nonspecific leakage from previous arteriolar damage in 20 (100%), including in patients who were otherwise in remission. Of the 11 episodes of disease activity in which all testing modalities were performed, visual field testing/fundoscopy was abnormal in 4 (36.4%), MRI brain in 2 (18.2%), audiogram in 8 (72.7%), and FA in 9 (81.8%).
CONCLUSIONS: New leakage on FA is the most sensitive marker of active disease. Persistent leakage represents previous damage, whereas new areas of leakage suggest ongoing disease activity that requires consideration of modifying immunosuppressive therapy.