-
Archivos de La Sociedad Espanola de... May 2022A 38-year-old man who attended the emergency department with headache, accompanied by vomiting, bradypsychia and gait instability, for which he was admitted to Neurology...
A 38-year-old man who attended the emergency department with headache, accompanied by vomiting, bradypsychia and gait instability, for which he was admitted to Neurology for study. During his admission, he began to present bilateral hearing loss and blurred vision in the left eye, with areas of arterial occlusion and hyperfluorescence of the arterial wall being observed in the ophthalmological examination. As a result, he was diagnosed with Susac syndrome. He was treated with systemic corticosteroids, as well as with rituximab and subsequently, with intravenous immunoglobulins and mycophenolate mofetil. The patient managed to preserve visual acuity, with gait instability and bilateral hearing loss as sequelae. Early diagnosis of Susac syndrome is important, because a delay in the start of treatment can lead to irreversible sequelae such as deafness, blindness or neurological involvement.
Topics: Adult; Early Diagnosis; Hearing Loss, Bilateral; Humans; Magnetic Resonance Imaging; Male; Susac Syndrome; Vision Disorders
PubMed: 35526953
DOI: 10.1016/j.oftale.2021.02.009 -
Klinische Monatsblatter Fur... Apr 2022Susac syndrome (SS) is an autoimmune disorder that involves the eyes, the brain, and the ears. It is a rare cause of recurrent branch retinal artery occlusion. The...
BACKGROUND
Susac syndrome (SS) is an autoimmune disorder that involves the eyes, the brain, and the ears. It is a rare cause of recurrent branch retinal artery occlusion. The purpose of this study was to report cases of SS, highlighting the clinical presentations, therapeutic options, and their outcome.
PATIENTS AND METHODS
Retrospective case series of patients seen at our institution for SS between 2005 and 2020. Demographics, clinical characteristics, treatment, and outcome were studied.
RESULTS
Four patients (3 females, mean age 29 years old) were included in the study. According to the recently revised diagnostic criteria, three patients had definite and one patient had probable SS (distinctive ophthalmological and brain involvement without ear involvement). Initial visual acuity (VA) was normal in all eyes, but two patients had unilateral visual field impairment. Gass plaques (defined as yellow-white plaques found in the arteriolar wall away from arterial bifurcations) were observed on fundus examination in all patients. Fluorescein angiography revealed arteriolar wall hyperfluorescence and branch retinal arterial occlusions (BRAOs) in the absence of other signs of intraocular inflammation in all patients. Initial treatment consisted of a high-dose corticosteroid (intravenous or oral) with additional immunosuppressive therapy (azathioprine, intravenous immunoglobulins, mycophenolate mofetil, and/or cyclophosphamide). Residual symptoms were present in all patients and included scotoma (n = 2) and hearing loss (n = 3).
CONCLUSION
SS is a rare disease with characteristic ophthalmological manifestation. The majority of patients present a crude form of the triad, and retinal findings may be the first initial manifestation. Ophthalmologists should consider the possibility of an SS in all young patients presenting with BRAOs.
Topics: Adult; Female; Fluorescein Angiography; Humans; Magnetic Resonance Imaging; Male; Retinal Artery Occlusion; Retrospective Studies; Susac Syndrome; Vision Disorders
PubMed: 35472796
DOI: 10.1055/a-1766-6243 -
BMC Neurology Apr 2022In this case, we reported the pseudobulbar affect (PBA) in a patient with Susac's syndrome-a rare condition that was caused by a rare syndrome. Previous case reports of...
BACKGROUND
In this case, we reported the pseudobulbar affect (PBA) in a patient with Susac's syndrome-a rare condition that was caused by a rare syndrome. Previous case reports of Susac syndrome described psychiatric symptoms such as emotional disturbances or personality changes. Only a few case reports have reported psychiatric disorders in patients with Susac's syndrome. There were no reported cases of Susac syndrome with PBA as an initial presentation.
CASE PRESENTATION
Our patient was 56 years old and presented with involuntary crying, left-sided headache, left-sided hearing loss, and tinnitus. Brain MRI showed numerous areas of restricted diffusion and enhancement involving the corpus callosum, bilateral hemispheres, and brainstem. Ophthalmological evaluation showed bilateral branch retinal artery occlusion. She was diagnosed with Susac's syndrome and PBA. She was treated with cyclophosphamide and dextromethorphan hydrobromide/quinidine sulfate with excellent recovery. This is a 2-year clinical course.
DISCUSSION AND CONCLUSIONS
Recognition of the clinical presentation of Susac's syndrome and PBA with early diagnosis and treatment are the keys to preventing further disability and impact on patients and their families.
Topics: Corpus Callosum; Crying; Female; Humans; Middle Aged; Rare Diseases; Retinal Artery Occlusion; Susac Syndrome
PubMed: 35468771
DOI: 10.1186/s12883-022-02639-9 -
Autoimmunity Reviews Jun 2022Susac syndrome is a rare disease characterized by an inflammatory microangiopathy limited to the brain, eye, and ear vessels. It mainly affects young women. Although the... (Review)
Review
Susac syndrome is a rare disease characterized by an inflammatory microangiopathy limited to the brain, eye, and ear vessels. It mainly affects young women. Although the pathophysiology is not fully elucidated, recent advances favour a primitive vasculitis affecting the cerebral, retinal and cochlear small vessels. Diagnosis relies on the recognition of the triad including: 1/subacute encephalopathy with unusual headache and pseudo-psychiatric features associated with multifocal ischemic white matter, grey matter nuclei and specifically corpus callosum lesions along with leptomeningeal enhancement on brain MRI, 2/ophthalmological involvement that may be pauci-symptomatic, with bilateral occlusions of the branches of the central artery of the retina at fundoscopy and arterial wall hyperfluorescence on fluorescein angiography, 3/cochleo-vestibular damage with neurosensorial hearing loss predominating on low frequencies. The full triad may not be present at diagnosis but should be sought repeatedly. Relapses are frequent during an active period lasting approximately 2 years. Eventually, the disease resolves but isolated retinal arterial wall hyperfluorescence without new occlusions may recur, which should not result in treatment intensification. First-line treatment mostly consists of high dose corticosteroids. In refractory patients or in case of relapse, immunomodulatory molecules such as intravenous immunoglobulins or immunosuppressive drugs such as mycophenolate mofetil, cyclophosphamide or rituximab should be started. Sequelae -mostly hearing loss and cognitive impairment- are usually mild but remain frequent in these young patients.
Topics: Brain; Female; Fluorescein Angiography; Hearing Loss; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 35413469
DOI: 10.1016/j.autrev.2022.103097 -
Rheumatology Advances in Practice 2022
PubMed: 35356386
DOI: 10.1093/rap/rkac020 -
Annals of Agricultural and... Mar 2022Susac syndrome (SuS) is a disease manifested as the clinical triad of encephalopathy, branch retinal artery occlusion, and loss of sensory neural hearing.
INTRODUCTION
Susac syndrome (SuS) is a disease manifested as the clinical triad of encephalopathy, branch retinal artery occlusion, and loss of sensory neural hearing.
CASE REPORT
The case is presented of a 28-year-old patient hospitalized due to visual impairment of the left eye, and whose hearing and neuropsychiatric disorders had appeared two years earlier. Magnetic resonance imaging demonstrated lesions located in the white matter and along the corpus callosum. An audiogram showed bilateral sensory neural hearing loss. Fluorescein angiography examination revealed branch retinal artery occlusion of the left eye. Based on the clinical picture and results of tests, the diagnosis of SuS was made. Despite the use of steroid and immunosuppression therapy the disease progressed.
CONCLUSIONS
The prognosis for SuS depends on the early diagnosis and implementation of treatment. It should be underlined that in case of hearing loss or encephalopathy of unknown cause, SuS should always be excluded.
Topics: Adult; Fluorescein Angiography; Hearing Loss; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 35352921
DOI: 10.26444/aaem/136524 -
Journal of Neuroimmunology Jun 2022Susac syndrome is an immune-mediated microvascular disease characterized by the clinical triad of acute multiple encephalopathies, branch retinal artery occlusion, and... (Review)
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.
Topics: Adult; Humans; Magnetic Resonance Imaging; Male; Retinal Artery Occlusion; Susac Syndrome; Vasculitis, Central Nervous System; Vision Disorders
PubMed: 35351321
DOI: 10.1016/j.jneuroim.2022.577822 -
Vaccines Feb 2022Due to the COVID-19 pandemic, numerous vaccines have been developed for the disease. However, with large-scale vaccination has come the gradual emergence of...
Due to the COVID-19 pandemic, numerous vaccines have been developed for the disease. However, with large-scale vaccination has come the gradual emergence of immunological phenomena caused by these new vaccines. Herein, we report a 48-year-old female with a sudden onset of inferior visual field defects in the left eye following her first dose of the ChAdOx1 vaccine. Dilated fundus examination combined with optical coherence tomography and fluorescein angiography confirmed the diagnosis of branch retinal artery occlusion. Within 4 weeks following vaccination, symptoms associated with hearing impairment developed, and magnetic resonance imaging revealed leptomeningeal enhancement. The diagnosis of Susac syndrome (SS) was confirmed. The development of SS may be caused by endotheliopathy resulting from the molecular mimicry of the ChAdOx1 vaccine. Clinicians should be aware of the symptoms of SS, which may develop after COVID-19 vaccination. Further experimental surveillance and case-control studies are required to confirm this relationship.
PubMed: 35334994
DOI: 10.3390/vaccines10030363 -
Der Radiologe Apr 2022White matter lesions of the central nervous system (CNS) are frequently encountered on magnetic resonance imaging (MRI) exams. If the morphologic findings, clinical... (Review)
Review
BACKGROUND
White matter lesions of the central nervous system (CNS) are frequently encountered on magnetic resonance imaging (MRI) exams. If the morphologic findings, clinical symptoms and laboratory results are not typical for one of the more common inflammatory CNS diseases, the diagnosis may become challenging, which also means that interesting and sometime emotional discussions may arise.
OBJECTIVE
While frequent causes of inflammatory CNS diseases were already discussed in a previous article, we now focus on more seldom forms and place attention on morphologic characteristics which may help to find the correct diagnosis.
Topics: Central Nervous System; Central Nervous System Diseases; Humans; Magnetic Resonance Imaging
PubMed: 35301573
DOI: 10.1007/s00117-022-00983-y -
European Journal of Neurology Jun 2022Susac syndrome (SuS) is an inflammatory condition of the brain, eye and ear. Diagnosis can be challenging, and misdiagnosis is common.
BACKGROUND AND PURPOSE
Susac syndrome (SuS) is an inflammatory condition of the brain, eye and ear. Diagnosis can be challenging, and misdiagnosis is common.
METHODS
This is a retrospective review of the medical records of 32 adult patients from an Australasian cohort of SuS patients.
RESULTS
An alternative diagnosis prior to SuS was made in 30 patients (94%) with seven patients receiving two or more diagnoses. The median time to diagnosis of SuS was 3 months (range 0.5-100 months). The commonest misdiagnoses were migraine in 10 patients (31%), cerebral vasculitis in six (19%), multiple sclerosis in five (16%) and stroke in five (16%). Twenty-two patients were treated for alternative diagnoses, 10 of whom had further clinical manifestations prior to SuS diagnosis. At presentation seven patients (22%) met criteria for definite SuS, 19 (59%) for probable SuS and six (19%) for possible SuS. Six patients (19%) presented with brain-eye-ear involvement, 14 with brain-ear (44%), six with brain-eye (19%) and six (19%) with only brain involvement. In patients with the complete triad of symptoms the median delay to diagnosis was 3 months (range 1-9 months) compared to 5.25 months (range 0.5-100 months) for patients with encephalopathy and ocular symptoms at presentation.
CONCLUSIONS
Susac syndrome patients are frequently misdiagnosed at initial presentation, despite many having symptoms or radiological features that are red flags for the diagnosis. Delayed diagnosis can lead to patient morbidity. The varied ways in which SuS can present, and clinician failure to consider or recognize SuS, appear to be the main factors leading to misdiagnosis.
Topics: Adult; Brain; Brain Diseases; Diagnosis, Differential; Diagnostic Errors; Humans; Magnetic Resonance Imaging; Susac Syndrome
PubMed: 35262238
DOI: 10.1111/ene.15317