Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management

Stroke ◽  
2021 ◽  
Author(s):  
Stéphanie Guey ◽  
Saskia A.J. Lesnik Oberstein ◽  
Elisabeth Tournier-Lasserve ◽  
Hugues Chabriat

Cerebral small vessel diseases represent a frequent cause of stroke and cognitive or motor disability in adults. A small proportion of cerebral small vessel diseases is attributable to monogenic conditions. Since the characterization in the late 1990s of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, several other monogenic conditions leading to adult-onset ischemic or hemorrhagic stroke have been described. In this practical guide, we summarize the key features that should elicit the differential diagnosis of a hereditary cerebral small vessel diseases in adult stroke patients, describe the main clinical and imaging characteristics of the major hereditary cerebral small vessel diseases that can manifest as stroke, and provide general recommendations for the clinical management of affected patients and their relatives.

2020 ◽  
Vol 49 (6) ◽  
pp. 625-631
Author(s):  
Carmen García-Cabo ◽  
Pablo Llano-Suárez ◽  
Lorena Benavente Fernández ◽  
Jose Manuel Costa-Fernández ◽  
Maria Teresa Fernández-Abedul ◽  
...  

<b><i>Introduction:</i></b> Differential diagnosis between ischemic and hemorrhagic strokes in the acute stage is one of the major challenges of neurovascular research. Several biomarkers have been studied, but attempts to date have focused on determining their blood levels. Recently, cerebral lymphatic drainage toward the nostrils has been discovered, giving us the chance to study nasal exudate looking for biomarkers of neural damage. We sought to confirm whether iron levels in nasal exudate could identify the hemorrhagic nature of acute stroke. <b><i>Methods:</i></b> We studied iron nasal exudate levels in 32 ischemic and 43 hemorrhagic stroke patients. All patients underwent neurological examination assessed by the National Institutes of Health Stroke Scale (NIHSS), brain computed tomography to the differential diagnosis of stroke subtype, laboratory tests, and measurement of iron levels in nasal exudate. <b><i>Results:</i></b> The iron levels in nasal exudate were higher in hemorrhagic stroke patients. The area under the receiver operating characteristic curve for ischemic/hemorrhagic stroke discrimination was 0.896 (95% confidence interval 0.823–0.970) and cutoff point of 0.078 nmol/mg (sensitivity 93%, specificity 73%). <b><i>Conclusions:</i></b> Our findings suggest that iron levels in nasal exudate may be useful in the acute stage for the differential diagnosis between ischemic and hemorrhagic damage in acute stroke patients. They also open a potential field to study other biomarkers in nasal exudate in several neurological disorders. Clinical studies must be performed to confirm our results.


2013 ◽  
Vol 154 (44) ◽  
pp. 1743-1746
Author(s):  
Gergely Hofgárt ◽  
Rita Szepesi ◽  
Bertalan Vámosi ◽  
László Csiba

Introduction: During the past decades there has been a great progress in neuroimaging methods. Cranial computed tomography is part of the daily routine now and its use allows a fast diagnosis of parenchymal hemorrhage. However, before the availability of computed tomography the differentiation between ischemic and hemorrhagic stroke was based on patient history, physical examination, percutan angiography and cerebrospinal fluid sampling, and the clinical utility could be evaluated by autopsy of deceased patients. Aim: The authors explored the diagnostic performance of cerebrospinal fluid examination for the diagnosis of ischemic and hemorrhagic stroke. Method: Data of 200 deceased stroke patients were retrospectively evaluated. All patients had liquor sampling at admission and all of them had brain autopsy. Results: Bloody or yellowish cerebrospinal fluid at admission had a positive predictive value of 87.5% for hemorrhagic stroke confirmed by autopsy, while clear cerebrospinal fluid had positive predictive value of 90.7% for ischemic stroke. Patients who had clear liquor, but autopsy revealed hemorrhagic stroke had higher protein level in the cerebrospinal fluid, but the difference was not statistically significant (p = 0.09). Conclusions: The results confirm the importance of pathological evaluation of the brain in cases deceased from cerebral stroke. With this article the authors wanted to salute for those who contributed to the development of the Hungarian neuropathology. In this year we remember the 110th anniversary of the birth, and the 60th anniversary of the death of professor Kálmán Sántha. Professor László Molnár would be 90 years old in 2013. Orv. Hetil., 154 (44), 1743–1746.


2019 ◽  
Vol 7 (3) ◽  
pp. 232-237
Author(s):  
Hana Larasati ◽  
Theresia Titin Marlina

Background: stroke is a disorder of nervous system function that occurs suddenly and is caused by brain bleeding disorders that can affect the quality of life physical dimensions, social dimensions, psychological dimensions, environmental dimensions. Based on the result of Lumbu study (2015) the number of samples were 71 people collected data using the (WHOQOL-BREF). There were 56 people (78,9%) had the poor quality of life of post stroke. The mean of post-stroke quality of life domain was physical domain (45,27%), psychological domain (49,87%), social relations domain (48,15%) and environmental domain (50.01%). Objective: the purpose of the study was know the quality of life of the stroke patients in Outpatient Polyclinic of Private Hospital in Yogyakarta. Methods: used descriptive quantitative by using questionnaire test of purposive sampling system based on patients who have been affected of ischemic or hemorrhagic stroke before, number 30 respondents. Result: quality of life of stroke patient of medium physical dimension (67%), psychological dimension (71%), social dimension (67%), dimension good environment (63%). Conclusion: the quality of life of stroke patients of physical dimension, psychological dimension, and moderate social dimension, while the quality of life of stroke patients were good environmental dimension.   Keywords: Hemorrhagic stroke, ischemic stroke, quality of life


2021 ◽  
Vol 9 ◽  
pp. 2050313X2110008
Author(s):  
Solange De Noon ◽  
Benjamin Ayres ◽  
Uday Patel ◽  
Rami Issa ◽  
Colan Maxwell Ho-Yen

Perivascular epithelioid cell neoplasms represent a group of uncommon mesenchymal tumours with as yet undiscovered benign counterpart. Although perivascular epithelioid cell neoplasms have been described arising in most organ systems as well as in soft tissue and bone, only a small number of perivascular epithelioid cell neoplasms have been reported in the bladder. To date, there is no agreed system for predicting the behaviour of these tumours. We describe a case of a perivascular epithelioid cell neoplasm of the bladder arising in a 57-year-old male and initially diagnosed on biopsy and present a review of the literature focussing on the pathological differential diagnosis and the importance of key histological features in conjunction with a broad immunohistochemical panel. This case report highlights the key features of bladder perivascular epithelioid cell neoplasms that distinguishes these rare neoplasms from other bladder lesions.


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