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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 -
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 -
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 -
BMJ Case Reports Mar 2022A woman in her late 20s presented with headaches and subacute encephalopathy. MRIs showed multiple punctate subcortical and periventricular white matter hyperintensities...
A woman in her late 20s presented with headaches and subacute encephalopathy. MRIs showed multiple punctate subcortical and periventricular white matter hyperintensities with diffusion restriction, infratentorial lesions, leptomeningeal enhancement of the cervical spinal cord, brainstem and cerebellum and two areas of high-signal abnormality at T4 and T6 raising suspicion for multiple sclerosis or acute disseminated encephalomyelitis.Further studies and evolution of her symptoms during her hospital stay confirmed the clinical triad of encephalopathy, branch retinal artery occlusions and hearing loss pathognomonic for Susac's syndrome.While cervical spinal cord and cauda equina involvement have been reported in Susac's syndrome previously, no thoracic spinal cord involvement has been reported.We report the novel MRI finding of thoracic spinal cord involvement in Susac's syndrome. In order to avoid misdiagnosis, neurologists and neuroradiologists should be aware that any part of the spinal cord can be involved in Susac's syndrome.
Topics: Cauda Equina; Female; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Spinal Cord; Susac Syndrome
PubMed: 35236690
DOI: 10.1136/bcr-2021-247351 -
Multiple Sclerosis Journal -... 2022Susac Syndrome (SuS) is an autoimmune endotheliopathy impacting the brain, retina and cochlea that can clinically mimic multiple sclerosis (MS).
BACKGROUND
Susac Syndrome (SuS) is an autoimmune endotheliopathy impacting the brain, retina and cochlea that can clinically mimic multiple sclerosis (MS).
OBJECTIVE
To evaluate non-lesional white matter demyelination changes in SuS compared to MS and healthy controls (HC) using quantitative MRI.
METHODS
3T MRI including myelin water imaging and diffusion basis spectrum imaging were acquired for 7 SuS, 10 MS and 10 HC participants. Non-lesional white matter was analyzed in the corpus callosum (CC) and normal appearing white matter (NAWM). Groups were compared using ANCOVA with Tukey correction.
RESULTS
SuS CC myelin water fraction (mean 0.092) was lower than MS(0.11, p = 0.01) and HC(0.11, p = 0.04). Another myelin marker, radial diffusivity, was increased in SuS CC(0.27μm2/ms) compared to HC(0.21μm2/ms, p = 0.008) and MS(0.23μm2/ms, p = 0.05). Fractional anisotropy was lower in SuS CC(0.82) than HC(0.86, p = 0.04). Fiber fraction (reflecting axons) did not differ from HC or MS. In NAWM, radial diffusivity and apparent diffusion coefficient were significantly increased in SuS compared to HC(p < 0.001 for both measures) and MS(p = 0.003, p < 0.001 respectively).
CONCLUSIONS
Our results provided evidence of myelin damage in SuS, particularly in the CC, and more extensive microstructural injury in NAWM, supporting the hypothesis that there are widespread microstructural changes in SuS syndrome including diffuse demyelination.
PubMed: 35186315
DOI: 10.1177/20552173221078834 -
Neuro-ophthalmology (Aeolus Press) 2022We report a case of a 28-year-old otherwise healthy female patient who presented with blurred vision in her right eye related to multiple branch retinal artery...
We report a case of a 28-year-old otherwise healthy female patient who presented with blurred vision in her right eye related to multiple branch retinal artery occlusions confirmed by fluorescein angiography. Investigation revealed positive antinuclear antibodies and an interatrial septal aneurysm on transthoracic echocardiography. The patient was treated with oral prednisolone and aspirin. Two months after her initial presentation, she developed hearing loss and tinnitus. Ophthalmological examination revealed temporal inferior and nasal inferior branch retinal artery occlusions in the left eye. Magnetic resonance imaging of the brain showed multifocal T2 hyperintense lesions in cortical and subcortical areas as well as the corpus callosum consistent with Susac's syndrome. The diagnosis of Susac's syndrome should be kept in mind in young patients presenting with multiple or recurrent retinal artery occlusions even in the absence of associated systemic symptoms to not delay appropriate management.
PubMed: 35095136
DOI: 10.1080/01658107.2021.1887286 -
Taiwan Journal of Ophthalmology 2021A 22-year-old male was referred for headaches, hearing impairment, and right eye scotoma. Branch retinal artery occlusion was revealed during the ophthalmological...
A 22-year-old male was referred for headaches, hearing impairment, and right eye scotoma. Branch retinal artery occlusion was revealed during the ophthalmological examination. Susac syndrome was suspected due to the symptoms described and the absence of cardiovascular risk factors. An extensive ophthalmological examination, including multimodal imaging was carried out, which is of special interest as it is considered to be a rare syndrome.
PubMed: 35070671
DOI: 10.4103/tjo.tjo_9_20 -
Neurological Sciences : Official... Jun 2022A 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...
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.
Topics: Adult; Brain; Female; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome; Vertigo
PubMed: 35006444
DOI: 10.1007/s10072-022-05865-8 -
Neurologia I Neurochirurgia Polska 2022Susac's syndrome is a rare microangiopathy affecting small vessels of the retina, inner ear and brain. It is characterised by a triad of symptoms: encephalopathy, visual...
Susac's syndrome is a rare microangiopathy affecting small vessels of the retina, inner ear and brain. It is characterised by a triad of symptoms: encephalopathy, visual defects, and sensorineural hearing loss. The disease is probably caused by an autoimmune process. Diagnosis is based on the typical symptoms, brain MRI, and, most importantly, fluorescein angiography. It is important to distinguish between Susac's syndrome and multiple sclerosis or migraine with aura, because misdiagnosis leads to the wrong treatment. To date, no detailed guidelines for the treatment of Susac's syndrome have been developed. Immunosuppression seems to be effective. It must be remembered that early and aggressive treatment is crucial, and that delays in diagnosis, and as a result in treatment implementation, worsen the prognosis.
Topics: Brain; Brain Diseases; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 34985117
DOI: 10.5603/PJNNS.a2021.0082