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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 -
Brain : a Journal of Neurology Apr 2022Susac syndrome is a disorder thought to be mediated by an autoimmune response towards endothelial cells, leading to a characteristic clinical triad of encephalopathy,... (Review)
Review
Susac syndrome is a disorder thought to be mediated by an autoimmune response towards endothelial cells, leading to a characteristic clinical triad of encephalopathy, visual disturbances due to branch arterial occlusions and sensorineural hearing impairment. Although it is a rare disease, three reasons make it important. First, given its variable presentation, Susac syndrome is underdiagnosed. Second, it is considered an important differential diagnosis in different neurological, psychiatric, ophthalmological and hearing disorders, and consequently is frequently misdiagnosed. Third, in many cases, Susac syndrome is diagnosed and treated late, with significant irreversible sequelae including dementia, blindness and hearing loss. Neuropathology findings derived from both Susac syndrome patient tissue and novel transgenic mouse models indicate cytotoxic CD8+ T cells adhere to microvessels, inducing endothelial cell swelling, vascular narrowing and occlusion, causing microinfarcts. Anti-endothelial cell antibodies are present in serum in 25% of Susac syndrome patients, but it is unclear whether they are aetiologically related to the disease, or an epiphenomenon. The clinical triad comprising encephalopathy, branch arterial occlusions, and sensorineural hearing impairment is considered pathognomonic, although great variability is found in presentation and natural course of disease. At first evaluation, only 13-30% of patients exhibit the full clinical triad, making diagnosis difficult. Retinal fluorescein angiography, optic coherence tomography, MRI and tonal audiometry are helpful methods for diagnosing and monitoring disease activity during treatment. By contrast, there are no reliable objective immune markers to monitor disease activity. Immunosuppression is the current treatment, with high-dose corticosteroid therapy as the mainstay, but additional therapies such as intravenous immunoglobulins, cyclophosphamide, rituximab and mycophenolate mofetil are often necessary, because the disease can be devastating, causing irreversible organ damage. Unfortunately, low rates of disease, variability in presentation and paucity of objective biomarkers make prospective controlled clinical trials for Susac syndrome treatment difficult. Current immunosuppressive treatments are therefore based on empirical evidence, mainly from retrospective case series and expert opinion. In this review, we draw attention to the need to take consider Susac syndrome in the differential diagnosis of different neurological, psychiatric, ophthalmological and hearing disorders. Furthermore, we summarize our current knowledge of this syndrome, in reference to its pathophysiology, diagnosis and management, emphasizing the need for prospective and controlled studies that allow a better therapeutic approach.
Topics: Animals; Brain Diseases; Diagnosis, Differential; Endothelial Cells; Hearing Disorders; Hearing Loss; Humans; Magnetic Resonance Imaging; Mice; Prospective Studies; Retrospective Studies; Susac Syndrome
PubMed: 35136969
DOI: 10.1093/brain/awab476 -
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 -
Journal of Neurology Jun 2022
Topics: Antibodies, Monoclonal, Humanized; Humans; Immunotherapy; Infliximab; Susac Syndrome
PubMed: 35043222
DOI: 10.1007/s00415-021-10922-x -
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 -
British Journal of Hospital Medicine... Dec 2021
Topics: Humans; Magnetic Resonance Imaging; Nasopharyngeal Carcinoma; Nasopharyngeal Neoplasms; Susac Syndrome
PubMed: 34983223
DOI: 10.12968/hmed.2021.0406 -
Journal of Neuro-ophthalmology : the... Dec 2021In this issue of JNO Drs. M. Tariq Bhatti and Mark L. Moster discuss the following 6 articles: Dinah Zur, Michaella Goldstein, Barequet D, Oron Y, Elkayam O, Karni A,... (Randomized Controlled Trial)
Randomized Controlled Trial
In this issue of JNO Drs. M. Tariq Bhatti and Mark L. Moster discuss the following 6 articles: Dinah Zur, Michaella Goldstein, Barequet D, Oron Y, Elkayam O, Karni A, Wilf-Yarkoni A, Regev K, Habot-Wilner Z. Susac's syndrome-A new ocular finding and disease outcome. Eye (Lond). 2021. doi: 10.1038/s41433-021-01464-7. Epub ahead of print.Durbant E, Radoi C, Garcia T, Denoyer A, Arndt C. Intravitreal triamcinolone injections in non-arteritic anterior ischemic optic neuropathy-A retrospective report. J Fr Ophtalmol. 2021;44:777-785.Cavanaugh MR, Blanchard LM, McDermott M, Lam BL, Tamhankar M, Feldon SE. Efficacy of Visual Retraining in the Hemianopic Field after Stroke: Results of a Randomized Clinical Trial. Ophthalmology. 2021;128:1091-1101.Czihal M, Lottspeich C, Köhler A, Prearo I, Hoffmann U, Priglinger SG, Mackert MJ. Transocular sonography in acute arterial occlusions of the eye in elderly patients: Diagnostic value of the spot sign. PLoS One. 2021;16:e0247072.Ailani J, Lipton RB, Goadsby PJ, Guo H, Miceli R, Severt L, Finnegan M, Trugman JM; ADVANCE Study Group. Atogepant for the Preventive Treatment of Migraine. N Engl J Med. 2021;385:695-706.Engelter ST, Traenka C, Gensicke H, Schaedelin SA, Luft AR, Simonetti BG, Fischer U, Michel P, Sirimarco G, Kägi G, Vehoff J, Nedeltchev K, Kahles T, Kellert L, Rosenbaum S, von Rennenberg R, Sztajzel R, Leib SL, Jung S, Gralla J, Bruni N, Seiffge D, Feil K, Polymeris AA, Steiner L, Hamann J, Bonati LH, Brehm A, De Marchis GM, Peters N, Stippich C, Nolte CH, Christensen H, Wegener S, Psychogios MN, Arnold M, Lyrer P; TREAT-CAD investigators. Aspirin vs. anticoagulation in cervical artery dissection (TREAT-CAD): an open-label, randomised, non-inferiority trial. Lancet Neurol. 2021;20:341-350.
Topics: Aged; Aspirin; Humans; Ophthalmology; Piperidines; Pyridines; Pyrroles; Retrospective Studies; Spiro Compounds; Stroke
PubMed: 34788240
DOI: 10.1097/WNO.0000000000001447