Headache in Susac's Syndrome.

PURPOSE OF REVIEW: Provide an overview of the current diagnosis, pathophysiology, and treatment of Susac's syndrome (SuS), with special emphasis on summarizing what is currently known about headache as a symptom of disease activity. RECENT FINDINGS: The most recent literature in SuS has focused on furthering the understanding of the underlying pathology and efficacy of treatments for SuS. The importance of early recognition to facilitate timely treatment and avoid long-term disability has been highlighted. Headache, the most common symptom experienced by patients with SuS, can occur up to 6 months in advance of other symptoms, and exacerbations of headache can herald increased disease activity. Susac's syndrome (SuS) is a rare disorder classically characterized by triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensory neuronal hearing loss (SNHL). The full triad is uncommon at initial presentation, which can confound efforts to make timely diagnosis and treatment decisions. Headache is the most common symptom in SuS, is often an early feature, and can help separate SuS from other diagnoses in the differential. However, the features and management of the headache associated with SuS have not been systematically defined in the literature.

Vestibular function assessment of Susac syndrome patients by the video head impulse test and cervical vestibular-evoked myogenic potentials.

BACKGROUND: Susac syndrome (retino-cochleo-cerebral vasculopathy, SuS) is an autoimmune endotheliopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. In contrast to data regarding auditory function, data measuring vestibular function is sparse and the cervical vestibular-evoked myogenic potentials (cVEMPs). OBJECTIVE: To determine whether the video head impulse test (vHIT) can serve as a confirmatory assessment of vestibulocochlear dysfunction in cases of suspected SuS. METHODS: Seven patients diagnosed with SuS underwent pure tone audiometry, a word recognition test, cVEMPs and the vHIT. RESULTS: Five patients were diagnosed with definite SuS, and two with probable SuS. Two patients were asymptomatic for hearing loss or tinnitus, and no sensorineural hearing loss was detected by audiograms. Four patients complained of tinnitus, and three patients reported experiencing vertigo. Three patients had abnormal cVEMPs results. All seven patients' vHIT results were normal, except for patient #2, who was one of the three who complained of vertigo. The calculated gain of her left anterior semicircular canal was 0.5, without saccades. CONCLUSIONS: This is the first study to describe the results of the vHIT and cVEMPs among a group of patients with SuS. The results suggest that the vHIT should not be the only exam used to assess the function of the vestibular system of SuS patients.

Progressive sensorineural hearing loss many years preceding completion of Susac's syndrome triad: A case report.

Susac's syndrome (SuS) is a rare disorder with a clinical triad of encephalopathy, sensorineural hearing loss, and branch retinal artery occlusions. We report a 7-year-old girl who presented with chronic, progressive sensorineural hearing loss, who, years later, presented with encephalopathy and vision loss. Such prolonged period between symptoms is unusual and to our knowledge, this is the longest interval between onset of hearing loss and completion of the full triad in SuS. In addition, she had a protracted disease course, requiring multiple immune therapies for disease control.

Cognitive dysfunction and brain atrophy in Susac syndrome.

BACKGROUND: Susac syndrome is a very rare cerebral small vessel disease, which can leave patients with cognitive impairment. We aimed at evaluating processing speed slowing, executive dysfunction and apathy and their relationships with whole brain and callosal atrophy. METHODS: Patients with Susac syndrome included in a prospective observational cohort study were evaluated, while clinically steady-state, with standardized brain MRI and a neuropsychological battery specifically designed to capture minimal cognitive alterations in non-disabled young patients. Brain volume and corpus callosum area were measured using 3D-T1 sequences, repeatedly overtime. Relationships between neuropsychological data and brain volumetric measures obtained the same day were tested with linear regression while controlling for sex, age, level of education, scores of depression and of apathy. RESULTS: Nineteen patients aged 37.5 ± 10.5 years were included. Mean follow-up time was 2.6 ± 1.3 years (5.8 ± 2.2 evaluations). While Montreal Cognitive Assessment scores were 25.1 ± 3.6, processing speed slowing was obvious (Trail Making Test version A: 43.1 ± 16.2 s; version B: 95.5 ± 67.9 s; reaction time: 314.6 ± 79.6 ms). Brain and corpus callosum atrophy was striking. No relationship was found between cognitive performances and brain volume or corpus callosum area. CONCLUSION: Patients with Susac syndrome show largely preserved global cognitive functions but important processing speed alterations. Although brain and corpus callosum area atrophy is prominent and evolving, we did not find any relationship with cognitive alterations, questioning the mechanisms underlying cognitive alterations in these patients. TRIAL REGISTRATION: Clinical Trial Registration-URL: https://www.clinicaltrials.gov Unique Identifier: NCT01481662.

Susac syndrome: about two cases.

Susac syndrome is an autoimmune endothelopathy that affects precapillary arterioles of the brain, retina and inner ear. We report for the first time observations of two patients with Susac syndrome in Senegal.

Retinal Arterio-Arterial Collaterals in Susac Syndrome.

BACKGROUND: The ophthalmic findings of Susac syndrome (SS) consist of visual field defects related to branch retinal artery occlusion (BRAO), and fluorescein angiography (FA) reveals a unique staining pattern. To date, retinal arterial collateral development has been described only in a single patient. Given that the immunopathological process in SS induces retinal ischemia, it is conceivable that abnormal blood vessel development may occur in affected individuals. METHODS: This is a retrospective observational study. The medical records including fundus photography and FA of all patients with SS were reviewed, and those with any type of retinal arterial collateral were identified. RESULTS: A total of 11 patients were identified with retinal collaterals. Five were men. Age ranged from 20 to 50 years. Ten patients had arterio-arterial (A-A) collaterals and 1 had arterio-venous (A-V) collaterals, and all had collaterals remote from the optic disc. No collaterals were present at onset of illness and the first developed at 9 months. CONCLUSIONS: The literature reveals scant evidence for the association between BRAO and retinal arterial collaterals. Our findings indicate that retinal arterial collaterals in SS are usually A-A and not A-V and may be more common in this disorder than previously believed. Collaterals do not develop early in the disease, and there may be a predilection toward development in men. The chronic inflammatory state of SS may be the stimulus for the development of these arterial collaterals.

Susac syndrome: the first case report in Peru. / Síndrome de Susac: primer reporte de caso en el Perú.

Susac Syndrome is a rare entity, characterized by a triad of subacute encephalopathy, retinal artery occlusion and sensorineural hearing loss. It is more common in women and the age of onset fluctuates between 9-58 years of age. The pathogenesis is presented as microangiopathic changes at the cerebral, retinal and cochlear levels associated with an autoimmune mechanism. We present the case of a 31-year-old woman who started with a diffuse headache, puerile behavior, bradylalia and somnolence. As the disease progressed, she had auditory deficit and arterial obstruction of the right temporal retinal branch in retinal fluorescein angiography. Brain magnetic resonance showed rounded hyperintense lesions in the corpus callosum, periventricular region and cerebellum. This is the first reported case of Susac Syndrome in Peru, presented with the classic triad, which is an infrequent presentation. However, cases that show incomplete forms should be evaluated in a timely manner to initiate timely treatment and avoid irreversible consequences.

El síndrome de Susac es una entidad rara, caracterizada por la triada clásica de encefalopatía subaguda, oclusión de la arteria retiniana e hipoacusia neurosensorial. Es más frecuente en mujeres, la edad de inicio fluctúa entre los nueve y los 58 años de edad. La patogénesis se plantea como un cuadro microangiopático a nivel cerebral, retiniano y coclear asociado a un mecanismo autoinmune. Presentamos el caso de una mujer de 31 años de edad que inició con cefalea holocraneana, conducta pueril, bradilalia y somnolencia. En la angiografía con fluoresceína de retina presentó en la evolución un déficit auditivo y obstrucción arterial de la rama temporal retiniana derecha. La resonancia magnética cerebral mostró lesiones redondeadas hiperintensas en el cuerpo calloso, región periventricular y cerebelo. Se reporta el primer caso de síndrome de Susac definido en Perú, el que se manifestó con la triada clásica, que es de presentación poco frecuente. Sin embargo, también los casos que muestran formas incompletas deben ser evaluados oportunamente para iniciar un tratamiento oportuno y evitar secuelas irreversibles.

Potential benefits of early aggressive immunotherapy in Susac syndrome.

Susac syndrome is a rare vasculopathy of unknown aetiology, affecting prominently young women and electively targeting brain (encephalopathy), retina (visual field defects), and cochlea (hearing loss), of which optimal treatment has yet to be established. We report clinical, CSF and MRI features together with the long-term outcome in a monocentric series of eight consecutive patients with unusual sex ratio (5 male; 3 female), to define the best diagnostic/therapeutic strategy. Six patients presented with the classical clinical triad within less than 6 months after symptoms onset; two did not suffer from sensorineural hearing loss. All but one received a treatment combining high doses of methylprednisolone and cyclophosphamide intravenously. The first two patients had very delayed diagnosis (6-4 months) resulting in severe cognitive sequelae. The third one had only mildly delayed diagnosis (2 months) with subsequent behaviour impairment and severe right hypoacousia. All three were unable to return to work. The last five patients who had early diagnosis and undelayed aggressive treatment were able to resume their professional activities.

RETINAL LESION EVOLUTION IN SUSAC SYNDROME.

PURPOSE: To describe retinal lesion development in Susac syndrome during acute, postacute, and late phases of the disease. METHODS: Cross-sectional study of four patients with Susac syndrome and longitudinal short-interval case study of one additional patient. Retinal changes were analyzed with high-resolution spectral domain optical coherence tomography and retinal fluorescein angiography. RESULTS: Retinal Susac syndrome lesions comprise four different lesion sections, which can be distinguished in acute and postacute phases of the disease: a primary section at the site of branch retinal artery occlusion, which spans more layers than supplied by the affected vessel; hypoxic sections from superficial and deep capillary networks; and an axonal damage section with degenerating axons from perished ganglion cells in the main and hypoxic sections. In the later stages, main and hypoxic lesion sections can no longer be distinguished, and both show degeneration from outer plexiform to retinal nerve fiber layers. CONCLUSION: The dynamics of lesion development and morphologically distinct lesion sections suggest more complex mechanisms of lesion evolution beyond an isolated endothelial immune reaction and subsequent hypoxic tissue damage. The characteristic lesion morphology assists in differentiating the diagnosis of acute visual loss in neuroinflammatory disease. Specificity of the identified changes has to be determined in future studies also including patients with other retinal vascular diseases.

A Rare Cause of Hearing Loss: Susac Syndrome.

Susac's syndrome is a rare autoimmune disease, which is characterized by microangiopathic changes that affects the brain, retina, and cochlea. It is mainly characterized by asymptomatic cerebral infarctions, low-and mid-frequency sensorineural hearing loss, and bilateral distal retinal artery occlusions. Otolaryngologists should be familiar with Susac's syndrome because hearing loss may be the initial presenting symptom. The recommended treatment options vary from antithrombotic to immunomodulatory drugs. Although in its early stage, remission from the disease or self-limiting clinical course may be observed. Residual disabilities such as blindness, deafness, and dementia may also be presented in its late stages. Awareness of the condition and suspicion in selected patients will provide early diagnosis and treatment, which are both important to prevent the development of severe sequelae.

Susac syndrome: diverse clinical findings and treatment.

We report a case of a 19-year-old woman presenting bilateral neurosensorial hearing loss, mental abnormalities, and loss of visual field in the left eye. Visual acuity was 20/20 in OD and 20/25 in OS. Patient was examined systemically. Audiometry showed sensorineural hearing loss in both ears. The magnetic resonance imaging (MRI) of brain revealed multiple small lesions in the white matter in both cerebral hemispheres and at the corpus callosum. Fundoscopy showed bilateral normal optic disc and sheathing of the arterioles in the middle periphery of OD. Retinal edema and cotton-wool spots were observed. Fluorescein angiography showed bilateral peripheral occlusive arterial vasculopathy. The patient was diagnosed with Susac syndrome and treated with quetiapine fumarate, flunitrazepam, and prednisone, which resulted in stabile outcome. This case shows that a high index of suspicion leading to early recognition and treatment is important to avoid irreversible damage.

Susac syndrome: diverse clinical findings and treatment / Síndrome de Susac: achados clínicos diversos e tratamento

We report a case of a 19-year-old woman presenting bilateral neurosensorial hearing loss, mental abnormalities, and loss of visual field in the left eye. Visual acuity was 20/20 in OD and 20/25 in OS. Patient was examined systemically. Audiometry showed sensorineural hearing loss in both ears. The magnetic resonance imaging (MRI) of brain revealed multiple small lesions in the white matter in both cerebral hemispheres and at the corpus callosum. Fundoscopy showed bilateral normal optic disc and sheathing of the arterioles in the middle periphery of OD. Retinal edema and cotton-wool spots were observed. Fluorescein angiography showed bilateral peripheral occlusive arterial vasculopathy. The patient was diagnosed with Susac syndrome and treated with quetiapine fumarate, flunitrazepam, and prednisone, which resulted in stabile outcome. This case shows that a high index of suspicion leading to early recognition and treatment is important to avoid irreversible damage.

Relatamos o caso de uma mulher de 19 anos apresentando perda auditiva neurossensorial bilateral, anormalidades mentais e perda de campo visual no olho esquerdo. A acuidade visual era 20/20 em OD e 20/25 em OE. Paciente foi sistematicamente investigada, audiometria mostrou perda auditiva neurossensorial nos dois ouvidos e ressonância magnética nuclear (RNM) cerebral mostrou múltiplas pequenas lesões na substância branca em ambos os hemisférios cerebrais e no corpo caloso. A fundoscopia mostrou disco óptico normal bilateral, e embainhamento das arteríolas na média periferia do olho direito. Edema de retina e exsudatos algodonosos foram vistos. Angiofluoresceinografia mostrou vasculopatia arterial obstrutiva periférica bilateral. A paciente foi diagnosticada com síndrome Susac e tratada com fumarato de quetiapina, flunitrazepam e prednisona resultando em estabilização do quadro. Este caso mostra que um alto índice de suspeita levando ao reconhecimento precoce e tratamento é importante para evitar o diagnóstico tardio.

A case of Susac syndrome.

The purpose of this article is to report on the first known Korean case of Susac syndrome. An 18-year-old female came to our clinic reporting blurred vision of the left eye for 2 days. She also complained of decreased hearing with tinnitus of the right ear and mild headache. She was previously healthy and had no remarkable medical history. Best-corrected visual acuity was 20 / 50 in the left eye and 20 / 20 in the right eye. An axiomatic triad of ocular, cochlear, and neurologic involvement was observed in the patient. Fluorescein angiography showed branched retinal arterial occlusions in the left eye. A sudden right sensorineural hearing loss was observed on audimetry. Magnetic resonance images showed a hyperintense lesion in the white matter around the corpus callosum. The patient was treated with high doses of systemic corticosteroids, and no neuropsychological sequelae were observed. This is the first case report of Susac syndrome in Korea. In cases of retinal arterial occlusion with hearing loss or neuropsychological symptoms, Susac syndrome should be suspected.