Central intra-lesional iron deposits as a possible novel imaging marker at 7 Tesla MRI in Susac Syndrome - an exploratory study.

BACKGROUND: Susac syndrome (SuS) is a rare autoimmune disease that leads to hearing impairment, visual field deficits, and encephalopathy due to an occlusion of precapillary arterioles in the brain, retina, and inner ear. Given the potentially disastrous outcome and difficulties in distinguishing SuS from its differential diagnoses, such as multiple sclerosis (MS), our exploratory study aimed at identifying potential new SuS-specific neuroimaging markers. METHODS: Seven patients with a definite diagnosis of SuS underwent magnetic resonance imaging (MRI) at 7 Tesla (7T), including T2* weighted and quantitative susceptibility mapping (QSM) sequences. T2 weighted hyperintense lesions were analyzed with regard to number, volume, localization, central vein sign, T1 hypointensity, and focal iron deposits in the center of SuS lesions ("iron dots"). Seven T MRI datasets from the same institute, comprising 75 patients with, among others, MS, served as controls. RESULTS: The "iron dot" sign was present in 71.4% (5/7) of the SuS patients, compared to 0% in our control cohort. Thus, sensitivity was 71.4% and specificity 100%. A central vein sign was only incidentally detected. CONCLUSION: We are the first to demonstrate this type of "iron dot" lesions on highly resolving 7T T2*w and QSM images in vivo as a promising neuroimaging marker of SuS, corroborating previous histopathological ex vivo findings.

Susac syndrome with the typical clinical triad: A case report and literature review.

Susac syndrome is an immune-mediated microvascular disease characterized by the clinical triad of acute multiple encephalopathies, branch retinal artery occlusion, and sensorineural hearing loss. However, the typical clinical triad is not seen in all patients at disease onset. In this study, a 29-year-old male was admitted to our hospital due to aggravation of headache accompanied by retarded reaction. After treatment for a diagnosis of possible central nervous system vasculitis, the patient's retarded reaction and neurological dysfunction were improved. One year after discharge, the patient had no abnormal clinical symptoms and he discontinued taking prednisone voluntarily five months after discharge. Two years later, the patient was admitted to our hospital again owing to a sudden visual field defect in the superonasal quadrant of the left eye for one week, and Susac syndrome was diagnosed. After treatment, the patient's condition became stabilized with no further progress, but the visual field defect did not recover. At the onset of Susac syndrome, the typical clinical triad of Susac syndrome is rare, so this disease is difficult to be recognized at the beginning. The case we report presented the clinical triad two years after the disease onset. We expect that this case report will increase physicians' understanding of Susac syndrome.

Magnetic Resonance Vessel Wall Imaging in Central Nervous System Vasculitides: A Case Series.

INTRODUCTION: We aim to report 3 cases of central nervous system (CNS) vasculitides, in which high-resolution magnetic resonance vessel wall imaging (HR-VWI) findings were instrumental in the diagnosis and management. CASE REPORT: Case 1: A 41-year-old obese, smoker female with arterial hypertension presented with recurrent transient ischemic attacks. Computed topography angiography demonstrated bilateral middle cerebral artery (MCA) stenosis. HR-VWI revealed uniform enhancement and thickening of the arterial wall, suggestive of MCA vasculitis. The patient reported chronic calf rash that was biopsied and revealed unspecified connective tissue disease. With immunomodulation, patient remained asymptomatic and 6-month surveillance HR-VWI showed improved MCA stenoses.Case 2: A 56-year-old male with herpes simplex virus 1 encephalitis was treated with antiviral therapy and improved clinically. Two months later, the brain magnetic resonance imaging revealed new temporo-parietal edema and distal MCA hyperintense vessels. HR-VWI showed MCA concentric smooth contrast enhancement, that was attributed to postinfectious vasculitis and had resolved on follow-up HR-VWI.Case 3: A 41-year-old male presented with 1-week of headache and encephalopathy. Brain magnetic resonance imaging revealed punctate multifocal acute ischemic infarcts and no contrast-enhancement. HR-VWI showed multifocal diffuse enhancement of distal cerebral vasculature. Patient subsequently developed branch retinal artery occlusion and hearing loss and was diagnosed with Susac syndrome. No recurrent symptoms were noted after immunotherapy initiation. CONCLUSIONS: In these 3 cases, HR-VWI identified distinctive vascular inflammatory changes, which were crucial to guide the etiological workup, positive diagnosis, surveillance neuroimaging, and targeted treatment. HR-VWI is an important diagnostic tool in CNS vasculitides, by providing nuanced information about arterial wall integrity and pathology.

Anecdotal Response to Amphotericin in a Patient with Probable Susac Syndrome: Implications in the Pathogenesis.

Susac syndrome is a rare, probably immune-mediated endotheliopathy presenting with encephalopathy, sensorineural hearing loss and retinal arterial occlusions. A 33-year-old female with Susac syndrome was worsening despite high-dose steroids so a brain biopsy was performed which suggested a possible fungal infection. Treatment with amphotericin B resulted in prompt reversal of symptoms and radiological findings, and no further symptoms occurred during 8 years of follow-up. A diagnosis of fungal infection was not confirmed. The etiology of Susac syndrome is unknown and this anecdotal observation suggests that an infectious agent susceptible to amphotericin might have caused or triggered Susac syndrome in this patient.

A síndrome de Susac é uma endoteliopatia rara, provavelmente imunomediada que se apresenta com a tríade sindromática de encefalopatia, surdez neurosensorial e oclusões de ramos arteriais da retina. Apresenta-se o caso de uma mulher de 33 anos com o diagnóstico de síndrome de Susac que agravou sob terapêutica imunossupressora, pelo que se decidiu pela realização de uma biópsia cerebral, que levantou a suspeita de uma possível infeção fúngica. O tratamento com anfotericina B resultou numa recuperação clínica e imagiológica rápida e não se verificou recorrência de sintomas num período de seguimento de oito anos. O diagnóstico de meningoencefalite fúngica não foi confirmado. A etiologia da síndrome de Susac é desconhecida. A observação fortuita da resposta terapêutica deste caso sugere que um agente infecioso suscetível à anfotericina B possa ter causado ou desencadeado esta síndrome, nesta doente.

Síndrome de Susac: Una causa poco frecuente de encefalopatía / Susac syndrome, a rare cause of encephalopathy

El síndrome de Susac es una enfermedad rara causada por oclusión autoinmune de la microvasculatura del cerebro, de la retina y del oído interno, lo que provoca la triada clínica característica de disfunción del sistema nervioso central, trastornos visuales y déficit vestíbulo-coclear. El diagnóstico se basa en las manifestaciones clínicas y en estudios complementarios que demuestren el compromiso de los tres sistemas. Existen diferentes tratamientos que incluyen combinaciones de varios fármacos inmunosupresores como corticoides, inmunoglobulina intravenosa, micofenolato mofetilo, entre otros. Presentamos el caso de una mujer de 26 años que manifestó hipoacusia izquierda, zumbidos y episodios de vértigo recurrente. Cuatro semanas después agregó visión borrosa bilateral, ataxia cerebelosa y encefalopatía. La resonancia magnética de cerebro mostró múltiples lesiones redondeadas hiperintensas en t2 y FLAIR (fluid-attenuated inversion recovery), hipointensas en t1 a nivel medial del cuerpo calloso, cápsula interna, cerebelo y pedúnculo cerebeloso medio derecho. La audiometría evidenció hipoacusia perceptual bilateral a predominio del oído izquierdo y en la angiografía por tomografía de coherencia óptica se observó obstrucción de arterias de la capa profunda de la retina. Se diagnosticó síndrome de Susac y se inició tratamiento con pulsos de metilprednisolona por 5 días y mantenimiento con micofenolato, revirtiendo totalmente la encefalopatía, con persistencia de leve ataxia e hipoacusia. Es importante conocer la triada clínica característica y los estudios complementarios necesarios para arribar al diagnóstico, ya que muchas veces se puede demorar el tratamiento inmunosupresor. Nuestro caso tuvo una excelente respuesta a los corticoides.

Susac syndrome is a rare disorder caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear. These occlusions lead to a characteristic clinical triad of central nervous system dysfunction, visual disturbances and vestibule-cochlear deficits. The diagnosis is based on clinical manifestations and complementary studies, which demonstrate the involvement of three systems. There are different treatments that include various immunosuppressive drugs combinations such as corticosteroids, intravenous immunoglobulin, mycophenolate mofetil, among others. We present the case of a 26-year-old woman with left hearing loss, tinnitus and episodes of recurrent vertigo, four weeks after bilateral blurred vision, cerebellar ataxia and encephalopathy. Magnetic resonance imaging of the brain showed multiple rounded hyperintense lesions in t2 and fluid-attenuated inversion recovery (FLAIR), hypointense in t1, at the middle level of the corpus callosum, internal capsule, cerebellum and right middle cerebellar peduncle. The audiometry evidenced bilateral perceptual hearing loss, predominantly in the left ear. Angiography by optical coherence tomography showed obstruction in the deep layer retina arteries. The Susac syndrome was diagnosed and treatment started with methylprednisolone pulses therapy, intravenously 1000 mg/ day for 5 days, followed by maintenance with mycophenolate, which completely reversed the encephalopathy, with persistence of mild ataxia and hearing loss. It is important to know the clinical triad characteristic and the complementary studies necessary to arrive at the diagnosis, since immunosuppressive treatment can often be delayed. Our case had an excellent response to corticosteroids.

Ensayo pictórico: diagnóstico diferencial radiológico en esclerosis múltiple / Pictory essay: radiological differential diagnosis of multiple sclerosis

La esclerosis múltiple (EM) es la enfermedad inflamatorio-desmielinizante del Sistema nervioso central más prevalente en adultos. La resonancia magnética (RM) juega un rol cada vez más importante en el estudio de esta patología, en especial en su diagnóstico precoz, por lo que la diferenciación imagenológica de variantes frecuentes e infrecuentes de EM con otras patologías de sustancia blanca que comprometen encéfalo y médula espinal es esencial. Mediante una revisión pictórica se ilustrarán características típicas en RM del compromiso por EM y de variantes menos habituales de lesión desmielinizante, y se ilustrarán hallazgos característicos de lesiones relacionadas a vasculopatías inflamatorias y no inflamatorias, encefalomielitis diseminada aguda (ADEM), neuromielitis óptica (NMO) y enfermedades vasculares de la médula espinal que pueden simular EM, con énfasis en el diagnóstico diferencial radiológico.

Multiple sclerosis (MS) is the most prevalent inflammatory-demyelinating disease of the central nervous system in adult population. Magnetic resonance imaging (MRI) has an increasingly important role, especially in early diagnosis, so the imaging differentiation of frequent and infrequent variants of MS with other white matter diseases of brain and spinal cord is essential. Through a pictorial essay we show typical MR features of MS and more infrequent variants of demyelinating lesions and illustrate characteristic imaging findings of inflammatory and non-inflammatory vasculopathies, acute disseminated encephalomyelitis (ADEM), neuromyelitis optica (NMO) and vascular diseases of spinal cord that may simulate MS, with emphasis on imaging differential diagnosis.

Susac's syndrome: isolated retinal artery occlusion after 10 years of remission / Síndrome de Susac: oclusão isolada da artéria retiniana após 10 anos de remissão

ABSTRACT Susac's syndrome, or microangiopathy of the retina, inner ear, and brain, is a rare condition characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. The complete triad has been documented in 85% of reported cases. At clinical onset, the most common manifestations are central nervous system symptoms, followed by visual symptoms and hearing disturbances. Although the clinical course of Susac's syndrome is usually self-limiting, fluctuating, and monophasic, clinical polycyclic and chronic courses have also been described. Likewise, recurrences of the full triad after more than 10 years of remission have been reported. We describe a 21-year-old woman who presented with branch retinal artery occlusions and magnetic resonance imaging findings compatible with Susac's syndrome without objective hearing loss. After 10 years of remission, the patient complained of visual field loss due to new retinal ischemia. Neither other symptoms nor neuroimaging or audiometry pathologic findings were found during the clinical course.

RESUMO A síndrome de Susac, ou a micro angiopatia da retina, do ouvido interno e do cérebro, é uma condição rara caracterizada pela tríade clínica de encefalopatia, oclusão de ramo da artéria retiniana e perda de audição neuro-sensorial. A tríade completa é documentada em 85% dos casos registrados. No início dos sinais clínicos, a manifestação mais comum relaciona-se ao sistema nervoso central, seguida por sintomas visuais e distúrbios auditivos. Apesar do curso clínico da síndrome de Susac ser usualmente auto limitante, variável e monofásico, cursos clínicos policíclicos e crônicos têm sido também descritos. Do mesmo modo, recorrências da tríade completa após mais de 10 anos de remissão têm sido relatadas. Descrevemos o caso de uma mulher de 21 anos que apresentava oclusões de ramos da artéria retiniana e imagens por ressonância magnética compatíveis com a síndrome de Susac, sem comprometimento objetivo da audição. Dez anos após a remissão, a paciente queixou-se de perda de campo visual devido a uma nova isquemia da retina. Nenhum outro sintoma, ou neuroimagem ou achado audiométrico patológico foi observado durante o curso clínico.

Urodynamic findings in Susac syndrome: first reported filling cystometrogram.

Susac syndrome is a rare neurological disease, with only 300 cases reported in the literature. Lower urinary symptoms are not an uncommon feature of the disease, yet there is no information on specific dysfunction typical urodynamic findings associated with the disease. We present what we believe to be the first reported filling cystometrogram study of Susac syndrome for the evaluation of voiding dysfunction.