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BMJ Case Reports Aug 2017A 67-year-old patient, only known for bilateral presbycusis, presented with subacute onset of delirium. Clinical examination showed multifocal neurological deficits, all...
A 67-year-old patient, only known for bilateral presbycusis, presented with subacute onset of delirium. Clinical examination showed multifocal neurological deficits, all together suggesting subcortical frontal dysfunction together with cerebellar and corpus callosum involvement.Cerebral MRI demonstrated supratentorial and infratentorial subcortical and periventricular T2-hyperintense lesions with cerebellar gadolinium enhancement and multiple central lesions of the corpus callosum (snowball lesions). The diagnosis of Susac syndrome was made and the patient treated with intravenous methylprednisolone, followed by a prednisone maintenance dose over 8 weeks. After a clinical improvement, a relapse was noticed during corticosteroid tapering. The patient was again treated with intravenous methylprednisolone followed by a prednisone maintenance therapy with simultaneous introduction of mycophenolate mofetil acid and one cycle of intravenous rituximab. The patient recovered rapidly. At 11-month follow-up, only mild executive dysfunction and persistent right postural tremor was noted, MRI showed partial regression of subcortical and juxtacortical lesions.
Topics: Aged; Delirium; Humans; Late Onset Disorders; Male; Recurrence; Susac Syndrome
PubMed: 28784886
DOI: 10.1136/bcr-2017-220494 -
Insights Into Imaging Oct 2018Acute ischaemic stroke represents the most common cause of new sudden neurological deficit, but other diseases mimicking stroke happen in about one-third of the cases.... (Review)
Review
Acute ischaemic stroke represents the most common cause of new sudden neurological deficit, but other diseases mimicking stroke happen in about one-third of the cases. Magnetic resonance imaging (MRI) is the best technique to identify those 'stroke mimics'. In this article, we propose a diagnostic approach of those stroke mimics on MRI according to an algorithm based on diffusion-weighted imaging (DWI), which can be abnormal or normal, followed by the results of other common additional MRI sequences, such as T2 with gradient recalled echo weighted imaging (T2-GRE) and fluid-attenuated inversion recovery (FLAIR). Analysis of the signal intensity of the parenchyma, the intracranial arteries and, overall, of the veins, is crucial on T2-GRE, while anatomic distribution of the parenchymal lesions is essential on FLAIR. Among stroke mimics with abnormal DWI, T2-GRE demonstrates obvious abnormalities in case of intracerebral haemorrhage or cerebral amyloid angiopathy, but this sequence also allows to propose alternative diagnoses when DWI is negative, such as in migraine aura or headaches with associated neurological deficits and lymphocytosis (HaNDL), in which cortical venous prominence is observed at the acute phase on T2-GRE. FLAIR is also of major interest when DWI is positive by better showing evocative distribution of cerebral lesions in case of seizure (involving the hippocampus, pulvinar and cortex), hypoglycaemia (bilateral lesions in the posterior limb of the internal capsules, corona radiata, striata or splenium of the corpus callosum) or in posterior reversible encephalopathy syndrome (PRES). Other real stroke mimics such as mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS), Susac's syndrome, brain tumour, demyelinating diseases and herpes simplex encephalitis are also included in our detailed and practical algorithm. KEY POINTS: • About 30% of sudden neurological deficits are due to non-ischaemic causes. • MRI is the best technique to identify stroke mimics. • Our practical illustrated algorithm based on DWI helps to recognise stroke mimics.
PubMed: 29934921
DOI: 10.1007/s13244-018-0637-y -
Case Reports in Neurological Medicine 2021We present a case report of a patient with incomplete Susac syndrome. He had cognitive impairment, corpus callosum lesions, and vestibulocochlear dysfunction on...
We present a case report of a patient with incomplete Susac syndrome. He had cognitive impairment, corpus callosum lesions, and vestibulocochlear dysfunction on brainstem auditory evoked responses. He was treated with methylprednisolone and plasmapheresis, improved, and then, also received rituximab. His improvement has been lasting as of this writing. This case shares our experience with a successful treatment of this rare condition that is incompletely understood and lacks well-established treatment guidelines.
PubMed: 34567813
DOI: 10.1155/2021/5591559 -
Brain Pathology (Zurich, Switzerland) Sep 2014
Review
Topics: Brain; CADASIL; Cerebral Small Vessel Diseases; Humans; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Neuroimaging; Susac Syndrome
PubMed: 25323667
DOI: 10.1111/bpa.12179 -
Ugeskrift For Laeger Jun 2016Rare causes of ischaemic stroke comprise a plethora of diagnoses of cardioembolic, inflammatory and genetic origin. The differential diagnosis is challenging but... (Review)
Review
Rare causes of ischaemic stroke comprise a plethora of diagnoses of cardioembolic, inflammatory and genetic origin. The differential diagnosis is challenging but important because these disorders (e.g. monogenetic disorders such as COL4A1 mutations) often affect young individuals, they typically require sophisticated diagnostics (e.g. fluorescence angiography in Susac's syndrome) and they are increasingly treatable (e.g. enzyme replacement for Fabry's disease). This review discusses practical considerations and recent diagnostic and therapeutic advances in uncommon causes of ischaemic stroke.
Topics: CADASIL; Endocarditis; Fabry Disease; Fibromuscular Dysplasia; Humans; Moyamoya Disease; Rare Diseases; Stroke; Susac Syndrome
PubMed: 27402127
DOI: No ID Found -
Medicina (Kaunas, Lithuania) 2017Susac syndrome is characterized by a clinical triad of encephalopathy, branch retinal artery occlusion, and hearing loss. Due to the absence of the whole complex of the...
Susac syndrome is characterized by a clinical triad of encephalopathy, branch retinal artery occlusion, and hearing loss. Due to the absence of the whole complex of the triad in the majority of cases at disease presentation, the syndrome often remains underdiagnosed and untreated. Headache is estimated to affect up to 80% of Susac syndrome patients, but the relevance of headache characteristics and profile is not yet clear. The proposed diagnostic criteria of the European Susac Consortium acknowledge headache as a possible brain manifestation if it is new, described as migrainous or oppressive, and precedes the other symptoms by not more than 6 months. Herein, a case series of different migraine-like headache associations attributed to Susac syndrome is presented and discussed in relevance with previously published literature. Our patients experienced different presentations of migraine-like headache related with Susac syndrome: exacerbation and chronification of headache just before the manifestation of the first symptoms of Susac syndrome, the manifestation of headache during the first episode of the syndrome, and an increasing frequency of headache during the course of the disease. The diagnosis of Susac syndrome in all three cases was confirmed by typical clinical symptoms and findings in retinal fluorescein angiography, audiometry, and brain magnetic resonance imaging, based on the diagnostic criteria of the European Susac Consortium. Based on the analysis of our presented cases, we conclude that headache attributed to Susac's syndrome is of migraine-like type but could be of different presentations in relation to the onset of the syndrome.
Topics: Brain; Fluorescein Angiography; Headache; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 29449066
DOI: 10.1016/j.medici.2018.01.003 -
Middle East African Journal of... Oct 2011A 27-year-old woman was referred by the neurologist for ophthalmic examination. She had a history of headache, visual loss in her right eye, four-limb paresthesia, and...
A 27-year-old woman was referred by the neurologist for ophthalmic examination. She had a history of headache, visual loss in her right eye, four-limb paresthesia, and behavioral changes over the previous 10 months. The patient complained of tinnitus and hearing loss for two weeks. The patient was initially diagnosed with multiple sclerosis, but auditory and retinal involvement (small branch retinal artery occlusion in fluorescein angiography) raised the possibility of Susac's syndrome.
PubMed: 22224024
DOI: 10.4103/0974-9233.90137 -
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 -
Medicine Mar 2007Susac syndrome is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions, mostly in young women. To our knowledge,...
Susac syndrome is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions, mostly in young women. To our knowledge, long-term outcome and impact of pregnancy have not been specifically addressed. We report a series of 9 patients (7 female, 2 male) followed at the same institution, with special emphasis on clinical outcome including pregnancy and long-term sequelae. Clinical, brain magnetic resonance imaging (MRI), funduscopy, retinal angiography, and audiogram data were recorded every 3-12 months. We also analyzed the 92 previously reported cases of Susac syndrome. Mean follow-up was 6.4 years. Age at onset was 30.4 years. The first symptom occurred between April and September in 7 of 9 patients in the current study, and in 68% of all patients. The complete triad at onset was clinically obvious in only 1 of 9 patients. Brain involvement was heralded by headache and symptoms of encephalopathy. Cerebrospinal fluid was abnormal in 5 patients showing pleocytosis (mean, 24.6; range, 6-85 cells/mL) and elevated protein level (mean, 210; range, 113-365 mg/dL). Over time, quantitative brain MRI analysis showed that the number of lesions diminished and did not parallel clinical flares, and MRI never normalized. At the end of follow-up, no patient had severe impairment, and all but 1 returned to work. Inner ear involvement was present at onset in 2 patients and occurred in others with a mean delay of 11 months. Initially unilateral in 3, it became bilateral in all. Mean hearing loss was 34 dB (range, 15-70 dB). Hearing loss never improved, either spontaneously or under treatment. The eye was involved at onset in 8 patients, and after 3 years in 1. All had multiple bilateral retinal artery branch occlusions and/or dye leakage with hyperfluorescence of the arterial wall on fluorescein angiography. Over time, angiography normalized in 3 patients. In others, it was still abnormal at the end of follow-up (range, 1.5-10 yr). On late findings, fluorescein leakage was more frequent than true arterial occlusion. Eye involvement was mostly asymptomatic, unilateral, peripheral, and resumed spontaneously to remit in other sites over time. Corticosteroids were efficient to treat encephalopathy, with relapses occurring when the dosage was tapered. Steroid treatment did not improve hearing loss or prevent new retinal arteriolar occlusions. Anticoagulation had a role in treating encephalopathy and retinal arteriolar occlusions. Three patients had 4 pregnancies. Two pregnancies needed induced abortion. One pregnancy was uneventful. One pregnancy was complicated with Susac disease flare in the early postpartum period. In conclusion, at the end of follow-up, most patients had returned to work and none had severe impairment. Pregnancy may affect the course of Susac syndrome, with relapse of encephalopathy postpartum. Our main finding was that the course of Susac syndrome is not self-limited as previously thought, since isolated retinal arteriolar involvement may occur as a very late manifestation.
Topics: Adrenal Cortex Hormones; Adult; Anticoagulants; Ataxia; Brain; Brain Diseases; Cerebrospinal Fluid Proteins; Cognition Disorders; Confusion; Female; Fluorescein Angiography; Follow-Up Studies; Headache; Hearing Loss; Humans; Immunosuppressive Agents; Leukocytosis; Magnetic Resonance Imaging; Male; Paresthesia; Personality Disorders; Platelet Aggregation Inhibitors; Pregnancy; Pregnancy Outcome; Retinal Artery Occlusion; Syndrome; Tinnitus; Treatment Outcome; Vertigo; Vision Disorders
PubMed: 17435589
DOI: 10.1097/MD.0b013e3180404c99 -
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