[Susac syndrome-interdisciplinary tracking of the chameleon: two different case reports]. / Das Susac-Syndrom ­ interdisziplinär dem Chamäleon auf der Spur: 2 unterschiedliche Falldarstellungen.

BACKGROUND: The diagnosis of Susac syndrome, a presumed autoimmune retinocochleocerebral microvasculopathy, is extremely complex. At the onset of this orphan disease patients can present with an incomplete clinical triad consisting of sensorineural hearing loss, visual loss because of retinal ischemia and diverse neurological symptoms. In terms of the pathophysiology, it is assumed that the vascular endothelial cells swell, occlude the lumina of the vessels and consequently cause ischemia in the surrounding tissue. Due to the wide range of symptoms it is extremely challenging to establish a correct diagnosis. Susac syndrome should be considered as an important differential diagnosis from other neurological, ophthalmological, psychological and otorhinolaryngological diseases. CASE REPORT: This report presents two different courses of the disease in patients with Susac's syndrome. The first case of a 46-year-old woman, with previously confirmed Susac's syndrome, describes the treatment adjustment and monitoring. The second case of a 30-year-old woman shows the establishment of the initial diagnosis. DISCUSSION: The two reported cases of Susac's syndrome show the multifaceted range of clinical findings and courses of the disease. Furthermore, the diagnostic and therapeutic options are discussed with respect to the current literature. Diagnostic criteria already published by the European Susac Consortium and a good interdisciplinary collaboration enable a diagnosis as early as possible, which is essential for avoiding delayed treatment and reducing morbidity.

Immunophenotyping of cerebrospinal fluid cells in ischaemic stroke.

BACKGROUND AND PURPOSE: Post-ischaemic immune cell invasion into the brain is well characterized in animal stroke models and contributes to neuronal damage. Therefore, it represents a promising therapeutic target. Cerebrospinal fluid (CSF) is easily accessible and may reflect cellular events within the parenchyma. However, comprehensive studies on CSF immune cells in patients with stroke are lacking. METHODS: In a retrospective cohort study, we performed extensive immune-cell profiling in CSF and peripheral blood of patients with acute ischaemic stroke and healthy controls. In patients with stroke, infarct size was quantified on follow-up imaging. RESULTS: Overall, 90 patients with ischaemic stroke and 22 controls were included in our study. After stroke, the total protein was increased (537.3 vs. 353.2 mg/L, P = 0.008) and the mean total white cell count was slightly but non-significantly elevated (1.76 vs. 0.50 cells/µL, P = 0.059). Proportions of CSF lymphocytes, monocytes and granulocytes and their respective subsets did not differ between patients with stroke and controls. In addition, there were no associations between proportions of major leukocyte subsets in CSF and the time from symptom onset to CSF sampling, infarct size or infarct localization. CONCLUSIONS: Ischaemic stroke induces only a very slight increase of CSF immune cells without changes in the composition of immune cell subsets, thus indicating that parenchymal inflammation is not sufficiently reflected in the CSF. Our findings suggest that CSF is not a major invasion route for immune cells and that CSF cell analyses are not suitable as biomarkers to guide future immune therapies for stroke.

Refinement of detecting atrial fibrillation in stroke patients: results from the TRACK-AF Study.

BACKGROUND AND PURPOSE: Detection of occult atrial fibrillation (AF) is crucial for optimal secondary prevention in stroke patients. The AF detection rate was determined by implantable cardiac monitor (ICM) and compared to the prediction rate of the probability of incident AF by software based analysis of a continuously monitored electrocardiogram at follow-up (stroke risk analysis, SRA); an optimized AF detection algorithm is proposed by combining both tools. METHODS: In a monocentric prospective study 105 out of 389 patients with cryptogenic stroke despite extensive diagnostic workup were investigated with two additional cardiac monitoring tools: (a) 20 months' monitoring by ICM and (b) SRA during hospitalization at the stroke unit. RESULTS: The detection rate of occult AF was 18% by ICM (n = 19) (range 6-575 days) and 62% (n = 65) had an increased risk for AF predicted by SRA. When comparing the predictive accuracy of SRA to ICM, the sensitivity was 95%, specificity 35%, positive predictive value 27% and negative predictive value 96%. In 18 patients with AF detected by ICM, SRA also showed a medium risk for AF. Only one patient with a very low risk predicted by SRA developed AF revealed by ICM after 417 days. CONCLUSIONS: A combination of SRA and ICM is a promising strategy to detect occult AF. SRA is reliable in predicting incident AF with a high negative predictive value. Thus, SRA may serve as a cost-effective pre-selection tool identifying patients at risk for AF who may benefit from further cardiac monitoring by ICM.

A brief review of Susac syndrome.

Susac syndrome was named after J.O. Susac who first described the syndrome in 1979. It is characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. It mainly occurs in young women. This underdiagnosed disease needs to be considered in the differential diagnosis of a broad variety of disorders. In Susac syndrome, autoimmune processes leading to damage and inflammation-related occlusion of the microvessels in brain, retina, and inner ear are thought to play a causal role. The diagnosis is based primarily on the clinical presentation, the documentation of branch retinal artery occlusion by fluorescence angiography, and characteristic findings on cerebral MRI, that help in distinguishing Susac syndrome from other inflammatory entities, like multiple sclerosis. Antiendothelial cell antibodies could be detected in some patients. Patients are successfully treated with immunosuppression, however, the best regimen still needs to be defined. As a result of the rarity of the disease, controlled therapeutic trials are missing so far. In this review, we want to demonstrate the clinical features, natural history, treatment, and clinical course of Susac syndrome, illustrated by a typical case history.

[Susac syndrome: an interdisciplinary challenge]. / Susac-Syndrom : Eine interdisziplinäre Herausforderung.

Susac syndrome, named after John Susac, the first to describe this condition, is characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. Although certainly a rare disease, Susac syndrome needs to be considered in the differential diagnosis of a broad variety of diseases. The pathogenesis is not yet clear. Autoimmune processes leading to damage and inflammation-related occlusion of the microvessels in brain, retina, and inner ear are thought to play a causal role. The diagnosis is based primarily on the clinical presentation, the documentation of branch retinal artery occlusion by fluorescence angiography, and characteristic findings on cerebral MRI. Usually, immunosuppressive therapy is required, though controlled therapy trials are missing so far. The intention of this review article is to raise awareness of this disease among neurologists, psychiatrists, ophthalmologists, and ENT specialists as a high number of unreported cases probably exists. Accordingly, the focus is on the clinical presentation and the diagnostic approach.

Neuroimaging in Susac's syndrome: focus on DTI.

BACKGROUND: Susac's syndrome is an underdiagnosed disease that is thought to occur mainly in young women. It is characterized by the triad of hearing loss, branch retinal artery occlusions, and encephalopathy with predominantly cognitive and psychiatric symptoms. Treatment consists of immunosuppressive therapy. Focal ischemic lesions in the central portion of the corpus callosum detectable by conventional MRI ("snowballs") are a typical feature of Susac's syndrome. The appearance of these lesions is not, however, correlated with the type and severity of the neuropsychological deficits. METHODS: Nine patients with Susac's syndrome, four men and five women, were investigated using Diffusion Tensor Imaging (DTI), a non-invasive technique for the detection of macro- and microstructural impairment of fiber integrity on the basis of normal values for the fractional anisotropy (FA). Patients were compared to a group of 83 healthy controls on a voxel-by-voxel basis. Several regions of interest were defined. RESULTS: Impairment of fiber integrity was found in every patient. As compared to the controls, every patient showed disruption of fiber integrity in the genu of the corpus callosum. Reduction of FA was found particularly in the prefrontal white matter. CONCLUSION: The type and severity of the encephalopathic symptoms in Susac's syndrome are much better represented by the prefrontal FA reductions detected by DTI than by the mostly sparse white matter abnormalities seen on conventional MRI. The fiber damage in the genu seems to be specific for patients with Susac's syndrome.