RESUMEN
Systemic vascular involvement in children with cerebral arteriopathies is increasingly recognized and often highly morbid. Fibromuscular dysplasia (FMD) represents a cerebral arteriopathy with systemic involvement, commonly affecting the renal and carotid arteries. In adults, FMD diagnosis and classification typically relies on angiographic features, like the 'string-of-beads' appearance, following exclusion of other diseases. Pediatric FMD (pFMD) is considered equivalent to adult FMD although robust evidence for similarities is lacking. We conducted a comprehensive literature review on pFMD and revealed inherent differences between pediatric and adult-onset FMD across various domains including epidemiology, natural history, histopathophysiology, clinical, and radiological features. Although focal arterial lesions are often described in children with FMD, the radiological appearance of 'string-of-beads' is highly nonspecific in children. Furthermore, children predominantly exhibit intimal-type fibroplasia, common in other childhood monogenic arteriopathies. Our findings lend support to the notion that pFMD broadly reflects an undefined heterogenous group of monogenic systemic medium-or-large vessel steno-occlusive arteriopathies rather than a single entity. Recognizing the challenges in categorizing complex morphologies of cerebral arteriopathy using current classifications, we propose a novel term for describing children with cerebral and systemic vascular involvement: 'cerebral and systemic arteriopathy of childhood' (CSA-c). This term aims to streamline patient categorization and, when coupled with advanced vascular imaging and high-throughput genomics, will enhance our comprehension of etiology, and accelerate mechanism-targeted therapeutic developments. Lastly, in light of the high morbidity in children with cerebral and systemic arteriopathies, we suggest that investigating for systemic vascular involvement is important in children with cerebral arteriopathies.
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Displasia Fibromuscular , Humanos , Displasia Fibromuscular/epidemiología , Displasia Fibromuscular/diagnóstico por imagen , Displasia Fibromuscular/complicaciones , Displasia Fibromuscular/diagnóstico , Niño , Factores de Riesgo , Adolescente , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/diagnóstico , Preescolar , Enfermedades Arteriales Cerebrales/diagnóstico por imagen , Enfermedades Arteriales Cerebrales/fisiopatología , Femenino , Pronóstico , Masculino , Edad de Inicio , Lactante , Valor Predictivo de las Pruebas , Terminología como Asunto , Angiografía CerebralRESUMEN
OBJECTIVE: To examine the association between cerebral artery stenosis and depressive symptoms in elderly patients. METHODS: The study participants were 365 patients aged ≥65 years who visited the psychiatric outpatient clinic, Samsung Medical Center between January 1, 2000, and December 31, 2019, and were diagnosed with depressive disorder. They had brain imaging tests including magnetic resonance angiography (MRA), psychological evaluations including the 15-item Geriatric Depression Scale (GDS-15), and lab tests. Individuals' cerebral artery stenosis was identified and the association with significant depressive symptoms was examined. RESULTS: Of the 365 subjects, 108 had at least one location of cerebral artery stenosis (29.6 %). The mean score of GDS-15 in the stenosis group was 8.1 (SD, 3.8), higher than the mean GDS-15 score of 6.5 (SD, 4.0) for the group without stenosis (p < 0.001). Compared to no middle cerebral artery (MCA) stenosis, having MCA stenosis was associated with significant depressive symptoms (p = 0.005). Compared to no posterior cerebral artery (PCA) stenosis, having left PCA stenosis was associated with significant depressive symptoms (p = 0.022). In the multivariable linear regression analysis, only bilateral MCA stenosis had a positive association with the score of GDS-15 (p = 0.013). CONCLUSION: Bilateral MCA stenosis and left PCA stenosis are associated with significant depressive symptoms among elderly patients, with bilateral MCA stenosis positively associated with the severity of depression.
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Depresión , Angiografía por Resonancia Magnética , Humanos , Anciano , Masculino , Femenino , Depresión/epidemiología , Constricción Patológica , Anciano de 80 o más Años , Enfermedades Arteriales Cerebrales/diagnóstico por imagen , Enfermedades Arteriales Cerebrales/epidemiología , Enfermedades Arteriales Cerebrales/complicaciones , Trastorno Depresivo/epidemiología , Arteria Cerebral Media/diagnóstico por imagen , Arteria Cerebral Posterior/diagnóstico por imagen , Escalas de Valoración PsiquiátricaRESUMEN
BACKGROUND: Infection may trigger pediatric arterial ischemic stroke (PAIS), notably when related to focal cerebral arteriopathy. Community- and individual-level nonpharmaceutical interventions during the COVID-19 pandemic resulted in a major decrease in pediatric viral infections. We explored the consequences on the incidence of PAIS. METHODS: Using national public health databases, we identified children hospitalized between 2015 and 2022 with PAIS. Using an age proxy (29 days to 7 years) and excluding patients with cardiac and hematologic conditions, we focused on children with PAIS presumably related to focal cerebral arteriopathy or with no definite cause. Considering the delay between infection and PAIS occurrence, we compared a prepandemic reference period, a period with nonpharmaceutical interventions, and a post-nonpharmaceutical intervention period. RESULTS: Interrupted time-series analyses of the monthly incidence of PAIS in this group showed a significant decrease in the nonpharmaceutical intervention period compared with the prepandemic period: -33.5% (95% CI, -55.2%, -1.3%); P=0.043. CONCLUSIONS: These data support the association between infection and PAIS presumably related to focal cerebral arteriopathy.
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COVID-19 , Accidente Cerebrovascular Isquémico , Humanos , COVID-19/epidemiología , COVID-19/complicaciones , Accidente Cerebrovascular Isquémico/epidemiología , Niño , Preescolar , Lactante , Masculino , Femenino , Incidencia , Recién Nacido , SARS-CoV-2 , Pandemias , Enfermedades Arteriales Cerebrales/epidemiología , Adolescente , Análisis de Series de Tiempo InterrumpidoRESUMEN
BACKGROUND: The use of thrombectomy in patients with acute stroke and a large infarct of unrestricted size has not been well studied. METHODS: We assigned, in a 1:1 ratio, patients with proximal cerebral vessel occlusion in the anterior circulation and a large infarct (as defined by an Alberta Stroke Program Early Computed Tomographic Score of ≤5; values range from 0 to 10) detected on magnetic resonance imaging or computed tomography within 6.5 hours after symptom onset to undergo endovascular thrombectomy and receive medical care (thrombectomy group) or to receive medical care alone (control group). The primary outcome was the score on the modified Rankin scale at 90 days (scores range from 0 to 6, with higher scores indicating greater disability). The primary safety outcome was death from any cause at 90 days, and an ancillary safety outcome was symptomatic intracerebral hemorrhage. RESULTS: A total of 333 patients were assigned to either the thrombectomy group (166 patients) or the control group (167 patients); 9 were excluded from the analysis because of consent withdrawal or legal reasons. The trial was stopped early because results of similar trials favored thrombectomy. Approximately 35% of the patients received thrombolysis therapy. The median modified Rankin scale score at 90 days was 4 in the thrombectomy group and 6 in the control group (generalized odds ratio, 1.63; 95% confidence interval [CI], 1.29 to 2.06; P<0.001). Death from any cause at 90 days occurred in 36.1% of the patients in the thrombectomy group and in 55.5% of those in the control group (adjusted relative risk, 0.65; 95% CI, 0.50 to 0.84), and the percentage of patients with symptomatic intracerebral hemorrhage was 9.6% and 5.7%, respectively (adjusted relative risk, 1.73; 95% CI, 0.78 to 4.68). Eleven procedure-related complications occurred in the thrombectomy group. CONCLUSIONS: In patients with acute stroke and a large infarct of unrestricted size, thrombectomy plus medical care resulted in better functional outcomes and lower mortality than medical care alone but led to a higher incidence of symptomatic intracerebral hemorrhage. (Funded by Montpellier University Hospital; LASTE ClinicalTrials.gov number, NCT03811769.).
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Infarto de la Arteria Cerebral Anterior , Accidente Cerebrovascular , Trombectomía , Terapia Trombolítica , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Hemorragia Cerebral/etiología , Terapia Combinada , Procedimientos Endovasculares , Imagen por Resonancia Magnética , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/terapia , Terapia Trombolítica/efectos adversos , Terapia Trombolítica/métodos , Tomografía Computarizada por Rayos X , Infarto Encefálico/diagnóstico por imagen , Infarto Encefálico/etiología , Infarto Encefálico/terapia , Enfermedad Aguda , Arterias Cerebrales/diagnóstico por imagen , Arterias Cerebrales/cirugía , Enfermedades Arteriales Cerebrales/complicaciones , Enfermedades Arteriales Cerebrales/diagnóstico por imagen , Enfermedades Arteriales Cerebrales/patología , Enfermedades Arteriales Cerebrales/cirugía , Infarto de la Arteria Cerebral Anterior/diagnóstico por imagen , Infarto de la Arteria Cerebral Anterior/patología , Infarto de la Arteria Cerebral Anterior/cirugíaRESUMEN
BACKGROUND: Inflammatory type focal cerebral arteriopathy (FCA-i) in the anterior circulation (AC) is well characterized, and the focal cerebral arteriopathy severity score (FCASS) reflects the severity of the disease. We identified cases of FCA-i in the posterior circulation (PC) and adapted the FCASS to describe these cases. METHODS: In this comparative cohort study, patients from the Swiss NeuroPaediatric Stroke Registry with ischemic stroke due to FCA-i between January 2000 and December 2018 were analyzed. A comparison between PC and AC cases regarding pediatric National Institutes of Health Stroke Scale score and pediatric stroke outcome measure and FCASS was performed. We estimated infarct size by the modified pediatric Alberta Stroke Program Early Computed Tomography Score in children with AC stroke and the adapted Bernese posterior diffusion-weighted imaging score in the PC. RESULTS: Thirty-five children with a median age of 6.3 (interquartile range, 2.7-8.2 [95% CI, 0.9-15.6]; 20 male; 57.1%) years with FCA-i were identified. The total incidence rate was 0.15/100â 000/year (95% CI, 0.11-0.21). Six had PC-FCA-i. Time to final FCASS was longer in the PC compared with AC; the evolution of FCASS did not differ. Initial pediatric National Institutes of Health Stroke Scale score was higher in children with FCA-i in the PC with a median of 10.0 (interquartile range, 5.75-21.0) compared with 4.5 (interquartile range, 2.0-8.0) in those with AC-FCA-i. Different from the anterior cases, PC infarct volume did not correlate with higher discharge, maximum, or final FCASS scores (Pearson correlation coefficient [r], 0.25, 0.35, and 0.54). CONCLUSIONS: FCA-i also affects the PC. These cases should be included in future investigations into FCA-i. Although it did not correlate with clinical outcomes in our cohort, the modified FCASS may well serve as a marker for the evolution of the arteriopathy in posterior FCA-i.
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Enfermedades Arteriales Cerebrales , Trastornos Cerebrovasculares , Accidente Cerebrovascular , Humanos , Niño , Masculino , Estudios de Cohortes , Trastornos Cerebrovasculares/complicaciones , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología , Enfermedades Arteriales Cerebrales/diagnóstico por imagen , Enfermedades Arteriales Cerebrales/epidemiología , Enfermedades Arteriales Cerebrales/complicaciones , InfartoRESUMEN
BACKGROUND AND PURPOSE: The characteristics of large vessel occlusion (LVO) in the acute phase of pediatric arterial ischemic stroke and their natural history according to stroke etiology are poorly explored. This studied aimed at describing the prevalence and the radiological evolution of LVO in pediatric AIS. MATERIALS AND METHODS: This single-center retrospective study included consecutive non-neonate children with acute arterial ischemic stroke, intracranial proximal LVO in the anterior circulation (MCA, anterior cerebral artery, and/or ICA), and clinical and imaging follow-up for at least 18 months, during a 9-year period. RESULTS: Intracranial LVO was observed in 24.8% of patients with anterior circulation arterial ischemic stroke and adequate follow-up (n = 26/105), with a median age of 4.2 years (IQR 0.8-9), sex ratio 1.16. The main stroke etiology associated with LVO was unilateral focal cerebral arteriopathy (n = 12, 46%). During follow-up, a specific pattern of unilateral poststroke anastomotic bridge was observed in 8/26 patients, with the poststroke development of nonperforating collaterals forming a bridge in bypass of the LVO site with visible distal flow, within a median delay of 11 months. The development of unilateral poststroke anastomotic bridge was only observed in patients with unilateral focal cerebral arteriopathy. No patient with this pattern experienced stroke recurrence or further progressive vascular modifications. CONCLUSIONS: After stroke, the development of unilateral poststroke anastomotic bridge is specifically observed in children with focal cerebral arteriopathy, appearing in the first year after stroke. This clinical-radiologic pattern was not associated with stroke recurrence or arterial worsening, differentiating it from progressive intracranial arteriopathy, such as Moyamoya angiopathy.
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Isquemia Encefálica , Enfermedades Arteriales Cerebrales , Trastornos Cerebrovasculares , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Humanos , Niño , Lactante , Preescolar , Estudios Longitudinales , Estudios Retrospectivos , Accidente Cerebrovascular Isquémico/complicaciones , Angiografía Cerebral/métodos , Accidente Cerebrovascular/etiología , Trastornos Cerebrovasculares/complicaciones , Enfermedades Arteriales Cerebrales/complicaciones , Isquemia Encefálica/complicacionesRESUMEN
Migraine is a disabling neurological disorder burdening patients globally. Through the increasing development of preclinical and clinical experimental migraine models, advancing appreciation of the extended clinical phenotype, and functional neuroimaging studies, we can further our understanding of the neurobiological basis of this highly disabling condition. Despite increasing understanding of the molecular and chemical architecture of migraine mechanisms, many areas require further investigation. Research over the last three decades has suggested that migraine has a strong genetic basis, based on the positive family history in most patients, and this has steered exploration into possibly implicated genes. In recent times, human genome-wide association studies and rodent genetic migraine models have facilitated our understanding, but most migraine seems polygenic, with the monogenic migraine mutations being considerably rarer, so further large-scale studies are required to elucidate fully the genetic underpinnings of migraine and the translation of these to clinical practice. The monogenic migraine mutations cause severe aura phenotypes, amongst other symptoms, and offer valuable insights into the biology of aura and the relationship between migraine and other conditions, such as vascular disease and sleep disorders. This review will provide an outlook of what is known about some monogenic migraine mutations, including familial hemiplegic migraine, familial advanced sleep-phase syndrome, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
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Artrogriposis , Enfermedades Arteriales Cerebrales , Trastornos Migrañosos , Humanos , Estudio de Asociación del Genoma Completo , Trastornos Migrañosos/genética , Mutación , CegueraRESUMEN
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an extremely rare hereditary cerebral small vessel disease caused by homozygous or compound heterozygous mutations in the gene coding for high-temperature requirement A serine peptidase 1 (HtrA1). Given the rare nature of the disease, delays in diagnosis and misdiagnosis are not uncommon. In this article, we reported the first case of CARASIL from Saudi Arabia with a novel homozygous variant c.1156C>T in exon 7 of the HTRA1 gene. The patient was initially misdiagnosed with primary progressive multiple sclerosis and treated with rituximab. CARASIL should be considered in the differential diagnosis of patients with suspected atypical progressive multiple sclerosis who have additional signs such as premature scalp alopecia and low back pain with diffuse white matter lesions in brain MRI. Genetic testing is important to confirm the diagnosis.
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Enfermedades Arteriales Cerebrales , Trastornos Cerebrovasculares , Leucoencefalopatías , Esclerosis Múltiple , Humanos , Infarto Cerebral/diagnóstico por imagen , Infarto Cerebral/genética , Infarto Cerebral/patología , Leucoencefalopatías/diagnóstico por imagen , Leucoencefalopatías/genética , Trastornos Cerebrovasculares/genética , Alopecia/diagnóstico , Alopecia/genética , Mutación , Serina Peptidasa A1 que Requiere Temperaturas Altas/genéticaRESUMEN
BACKGROUND: The effects of the glycoprotein IIb/IIIa receptor inhibitor tirofiban in patients with acute ischemic stroke but who have no evidence of complete occlusion of large or medium-sized vessels have not been extensively studied. METHODS: In a multicenter trial in China, we enrolled patients with ischemic stroke without occlusion of large or medium-sized vessels and with a National Institutes of Health Stroke Scale score of 5 or more and at least one moderately to severely weak limb. Eligible patients had any of four clinical presentations: ineligible for thrombolysis or thrombectomy and within 24 hours after the patient was last known to be well; progression of stroke symptoms 24 to 96 hours after onset; early neurologic deterioration after thrombolysis; or thrombolysis with no improvement at 4 to 24 hours. Patients were assigned to receive intravenous tirofiban (plus oral placebo) or oral aspirin (100 mg per day, plus intravenous placebo) for 2 days; all patients then received oral aspirin until day 90. The primary efficacy end point was an excellent outcome, defined as a score of 0 or 1 on the modified Rankin scale (range, 0 [no symptoms] to 6 [death]) at 90 days. Secondary end points included functional independence at 90 days and a quality-of-life score. The primary safety end points were death and symptomatic intracranial hemorrhage. RESULTS: A total of 606 patients were assigned to the tirofiban group and 571 to the aspirin group. Most patients had small infarctions that were presumed to be atherosclerotic. The percentage of patients with a score of 0 or 1 on the modified Rankin scale at 90 days was 29.1% with tirofiban and 22.2% with aspirin (adjusted risk ratio, 1.26; 95% confidence interval, 1.04 to 1.53, P = 0.02). Results for secondary end points were generally not consistent with the results of the primary analysis. Mortality was similar in the two groups. The incidence of symptomatic intracranial hemorrhage was 1.0% in the tirofiban group and 0% in the aspirin group. CONCLUSIONS: In this trial involving heterogeneous groups of patients with stroke of recent onset or progression of stroke symptoms and nonoccluded large and medium-sized cerebral vessels, intravenous tirofiban was associated with a greater likelihood of an excellent outcome than low-dose aspirin. Incidences of intracranial hemorrhages were low but slightly higher with tirofiban. (Funded by the National Natural Science Foundation of China; RESCUE BT2 Chinese Clinical Trial Registry number, ChiCTR2000029502.).
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Fibrinolíticos , Accidente Cerebrovascular Isquémico , Tirofibán , Humanos , Aspirina/efectos adversos , Isquemia Encefálica/tratamiento farmacológico , Isquemia Encefálica/etiología , Fibrinolíticos/efectos adversos , Fibrinolíticos/uso terapéutico , Hemorragias Intracraneales/inducido químicamente , Accidente Cerebrovascular Isquémico/diagnóstico , Accidente Cerebrovascular Isquémico/tratamiento farmacológico , Accidente Cerebrovascular Isquémico/etiología , Inhibidores de Agregación Plaquetaria/efectos adversos , Inhibidores de Agregación Plaquetaria/uso terapéutico , Tirofibán/efectos adversos , Tirofibán/uso terapéutico , Resultado del Tratamiento , Enfermedades Arteriales Cerebrales/tratamiento farmacológico , Enfermedades Arteriales Cerebrales/etiologíaRESUMEN
Though rare, stroke in infants and children is an important cause of mortality and chronic morbidity in the pediatric population. Neuroimaging advances and implementation of pediatric stroke care protocols have led to the ability to rapidly diagnose stroke and in many cases determine the stroke etiology. Though data on efficacy of hyperacute therapies, such as intravenous thrombolysis and mechanical thrombectomy, in pediatric stroke are limited, feasibility and safety data are mounting and support careful consideration of these treatments for childhood stroke. Recent therapeutic advances allow for targeted stroke prevention efforts in high-risk conditions, such as moyamoya, sickle cell disease, cardiac disease, and genetic disorders. Despite these exciting advances, important knowledge gaps persist, including optimal dosing and type of thrombolytic agents, inclusion criteria for mechanical thrombectomy, the role of immunomodulatory therapies for focal cerebral arteriopathy, optimal long-term antithrombotic strategies, the role of patent foramen ovale closure in pediatric stroke, and optimal rehabilitation strategies after stroke of the developing brain.
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Enfermedades Arteriales Cerebrales , Accidente Cerebrovascular Isquémico , Niño , Humanos , Enfermedades Arteriales Cerebrales/complicaciones , Enfermedades Arteriales Cerebrales/diagnóstico , Enfermedades Arteriales Cerebrales/tratamiento farmacológico , Enfermedades Arteriales Cerebrales/terapia , Fibrinolíticos/administración & dosificación , Fibrinolíticos/uso terapéutico , Cardiopatías/complicaciones , Enfermedades Hematológicas/complicaciones , Infecciones/complicaciones , Accidente Cerebrovascular Isquémico/diagnóstico , Accidente Cerebrovascular Isquémico/etiología , Accidente Cerebrovascular Isquémico/rehabilitación , Accidente Cerebrovascular Isquémico/terapia , Neoplasias/complicaciones , Terapia Trombolítica , Trombolisis MecánicaRESUMEN
BACKGROUND: Focal cerebral arteriopathy (FCA) is a common cause of childhood arterial ischemic stroke in previously healthy children. Although its mechanisms are poorly understood, recent studies have suggested inflammatory processes. Magnetic resonance vessel wall imaging (VWI) is a potential imaging biomarker of inflammation. CASE DESCRIPTION: We describe the case of a 7-year-old Japanese girl with right hemiplegia and dysarthria for 3 days. Brain MRI showed acute infarct in the left basal ganglia, and MRA and conventional cerebral angiogram detected vascular stenosis in the left distal internal carotid artery, left M1 and A1 segments. VWI revealed marked vessel wall enhancement and thickening in the left carotid artery, M1, and A2 segments. Based on imaging findings, she was diagnosed with acute ischemic stroke caused by FCA. Because VWI findings were thought to suggest vessel wall inflammation, high-dose steroid therapy was administered in addition to neuroprotective care and antithrombotic therapy. Although her clinical symptoms improved immediately, cerebral arteriopathy worsened on MRA a month after the onset. Subsequently, after 3 months of steroid therapy, vessel wall enhancement on VWI decreased, while arterial stenosis partially improved. At the follow-up 9 months after the onset, she had no recurrent stroke, her arteriopathy had stabilized. DISCUSSION: Definitive evidence of inflammatory mechanisms in FCA is limited, and appropriate management and treatment strategies for FCA are undefined. VWI attempts to demonstrate pathologic processes within the vessel wall, and reversible wall enhancement observed in our patient suggested the presence of inflammation. VWI would help in the evaluation of disease activity in FCA. CONCLUSION: VWI may contribute to the appropriate diagnosis and treatment for FCA to reflect active inflammation. Further work is needed to assess the utility of VWI in pediatric FCA.
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Enfermedades Arteriales Cerebrales , Accidente Cerebrovascular Isquémico , Humanos , Niño , Femenino , Constricción Patológica , Angiografía por Resonancia Magnética/métodos , Imagen por Resonancia Magnética , Enfermedades Arteriales Cerebrales/diagnóstico por imagen , Inflamación , EsteroidesRESUMEN
OBJECTIVES: Mutations in the MYH11 gene result in smooth muscle cell dysfunction and are associated with familial thoracic aortic aneurysms and dissection. We describe a pediatric patient with a stroke and a pathogenic MYH11 IVS32G>A mutation, and a phenotype similar to ACTA2. METHODS: A proband girl with an acute ischemic stroke underwent genetic analysis and 7T high-resolution MRI. RESULTS: A 12-year-old girl presented with a right middle cerebral artery occlusion. She received thrombolysis and underwent mechanical thrombectomy. An extensive stroke work-up was negative. A three-generation pedigree showed a splice site mutation of MYH11 IVS32G>A of the proband and three more family members. A 7T-MRI showed "broomstick-like" straightening of distal arterial segments, a V-shaped anterior corpus callosum and a post-stroke cystic area of encephalomalacia. This vascular appearance and parenchymal abnormalities typically present in patients with an ACTA2 phenotype. 7T-MRI also demonstrated thickening of the right middle cerebral arterial wall. DISCUSSION: This case suggests that MYH11 patients may have a similar angiographic and brain parenchymal phenotype to patients with ACTA2 mutations. This is the first report of arterial wall thickening in a MYH11 stroke patient using 7T-MRI. Patients with MYH11 mutations may display a focal cerebral steno-occlusive arteriopathy that may lead to stroke.
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Enfermedades Arteriales Cerebrales , Trastornos Cerebrovasculares , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Femenino , Humanos , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/genética , Imagen por Resonancia Magnética , Cadenas Pesadas de Miosina/genéticaRESUMEN
INTRODUCTION: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive etiology of cerebral small-vessel disease. The bulk of CARASIL cases reported in the literature was from Japan and China. Herein, we report the first genetically confirmed case of CARASIL in the Arabic population. CASE PRESENTATION: We present the case of a 35-year-old Bahraini woman diagnosed with an acute ischemic stroke after experiencing right-sided weakness and slurred speech. She had complained of persistent headaches, decreased memory, hair loss, joint pain, and personality changes. CARASIL was suspected on her medical history and brain imaging results, and genetic testing confirmed the diagnosis. CONCLUSION: This case contributes to our understanding of CARASIL, which is an extremely rare disease. It adds to the growing data on disease reporting outside China and Japan. We also report the first case of CARASIL in an Arabic patient and describe magnetic resonance spectroscopy finding partially different from what has been reported before.
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Enfermedades Arteriales Cerebrales , Trastornos Cerebrovasculares , Accidente Cerebrovascular Isquémico , Femenino , Humanos , Adulto , Infarto Cerebral , Alopecia/complicaciones , Alopecia/genética , Dolor de EspaldaRESUMEN
INTRODUCTION: Moyamoya arteriopathy is a severe, progressive cerebral arteriopathy that places affected children at high risk for stroke. Moyamoya has been associated with a range of neuropsychological deficits in adults, but data on many cognitive domains remain limited in the pediatric population and little is known about the neuropsychological profile of children with syndromic moyamoya. METHODS: This is a single-center, retrospective cohort study of children with moyamoya arteriopathy followed at our center who underwent neuropsychological testing between 2003 and 2021. Test scores were extracted from neuropsychological reports. Medical records were reviewed with attention to individual neuropsychological test results, medical comorbidities, presence of infarct(s) on neuroimaging, and history of clinical ischemic stroke. RESULTS: Of the 83 children with moyamoya followed at our center between 2003 and 2021, 13 had completed neuropsychological testing across multiple cognitive domains. Compared to age-based normative data, children in this sample had lower scores in overall intelligence (p = 0.003), global executive functioning (p = 0.005), and overall adaptive functioning (p = 0.015). There was no significant difference in overall intelligence between children with (n = 6) versus without (n = 7) a history of clinical stroke (p = 0.368), though children with any radiographic infarct scored lower in this domain (p = 0.032). CONCLUSION: In our cohort, children with moyamoya demonstrated impaired intelligence and executive functioning, even in the absence of clinical stroke. Neuropsychological evaluation should be considered standard of care for all children with moyamoya, even those without a history of clinical stroke.
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Enfermedades Arteriales Cerebrales , Accidente Cerebrovascular Isquémico , Enfermedad de Moyamoya , Accidente Cerebrovascular , Niño , Humanos , Estudios Retrospectivos , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/complicaciones , Enfermedades Arteriales Cerebrales/complicaciones , Accidente Cerebrovascular Isquémico/complicaciones , Pruebas NeuropsicológicasRESUMEN
BACKGROUND: Studies using animal models have shown that cerebral hypoperfusion causes hyperphosphorylation of tau protein, leading to neuronal damage. However, the relationship between hypoperfusion and tau deposition in humans is unclear. Hence, we aimed to determine whether cerebral hypoperfusion leading to decreased blood flow relative to metabolic demand [increased oxygen extraction fraction (OEF), misery perfusion] is associated with increased tau deposition in patients with atherosclerotic internal carotid artery or middle cerebral artery disease. METHODS: We prospectively evaluated the distribution of tau aggregate deposition using positron emission tomography and 18F-florzolotau (PMPBB3 [1-fluoro-3-((2-((1E,3E)-4-(6-(methylamino)pyridine-3-yl)buta-1,3-dien-1-yl)benzo[d]thiazol-6-yl)oxy)propan-2-ol)]) in 8 patients with atherosclerotic disease of the internal carotid artery or middle cerebral artery. The standardized uptake value ratio of 18F-florzolotau at 100 to 110 minutes after injection was calculated using the cerebellar cortex as a reference region and was correlated with OEF obtained from 15O-gas positron emission tomography in the middle cerebral artery distributions. RESULTS: Significant decreases in cerebral blood flow and cerebral metabolic rate of oxygen and increases in OEF were found in the hemisphere ipsilateral to the arterial lesion. 18F-florzolotau standardized uptake value ratio in this region was also greater than that in the contralateral hemisphere. In the ipsilateral hemisphere, 18F-florzolotau standardized uptake value ratio positively correlated with OEF values. CONCLUSIONS: This pilot study with a small sample size suggests that increases in OEF-misery perfusion-may be associated with increased tau aggregates deposition in atherosclerotic internal carotid artery or middle cerebral artery disease.
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Enfermedades Arteriales Cerebrales , Proteínas tau , Humanos , Proyectos Piloto , Tomografía de Emisión de Positrones/métodos , Circulación Cerebrovascular/fisiología , Perfusión , OxígenoRESUMEN
Up to more than half of previously healthy children presenting with their first arterial ischemic stroke have a cerebral arteriopathy. Cerebral arteriopathies during childhood can be congenital, reflecting abnormal vessel development, or acquired when caused by disruption of vascular homeostasis. Distinguishing different types of cerebral arteriopathies in children can be challenging but of great clinical value as they may dictate different disease and treatment courses, and clinical and radiologic outcomes. Furthermore, children with stroke due to a specific arteriopathy exhibit distinctive features when compared to those with stroke due to other causes or a different type of arteriopathy. These features become crucial in the management of pediatric stroke by choosing appropriate diagnostic and treatment strategies. The objective of this article is to provide the reader with a comprehensive up-to-date review of the classification, symptoms, diagnosis, treatment, and outcome of cerebral arteriopathies in children.
Asunto(s)
Enfermedades Arteriales Cerebrales , Trastornos Cerebrovasculares , Accidente Cerebrovascular , Niño , Humanos , Enfermedades Arteriales Cerebrales/diagnóstico , Enfermedades Arteriales Cerebrales/terapia , Enfermedades Arteriales Cerebrales/complicaciones , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/terapiaRESUMEN
BACKGROUND AND AIMS: Endovascular treatment is suitable for middle cerebral artery (MCA) with focal lesion. Therefore, accurate evaluation of the morphological features of MCA disease is critical. Ultrasonography is commonly used to screen for MCA lesions. However, there are few studies on lesion length. Using ultrasonography, we aimed to prospectively evaluate MCA disease with focal stenosis, long stenosis, focal occlusion, and long occlusion. METHODS: Patients with symptomatic MCA disease scheduled for digital subtraction angiography were enrolled. The ultrasonic parameters recorded included mean flow velocity at MCA (VMCA) and extracranial internal carotid artery (VICA), bilateral VMCA ratio, bilateral VICA ratio, and MCA flow continuity. RESULTS: A total of 278 MCAs were included. Compared to normal vessels, the bilateral VMCA ratio increased in the focal stenosis group and decreased in the long lesion and focal occlusion groups (all p < 0.05); the VICA and bilateral VICA ratio decreased in the long lesion group (all p < 0.01), and there was no significant difference in the focal lesion group (all p > 0.05). The optimal cut-offs were bilateral VMCA ratio <0.80 to predict long lesions and focal occlusions (sensitivity: 0.898, specificity: 0.975), and bilateral VICA ratio <0.84 to predict long lesions (sensitivity: 0.704, specificity: 0.879). The sensitivity and specificity to predict long occlusions were 96.7% and 94.8%, respectively, in the absence of MCA flow continuity. CONCLUSIONS: Neck-brain integrated ultrasound is an appropriate screening method for identifying MCA lesions with different morphologies. Endovascular treatment might not be recommended when bilateral VICA ratio <0.84 in patients with MCA lesions.
Asunto(s)
Enfermedades Arteriales Cerebrales , Arteria Cerebral Media , Humanos , Arteria Cerebral Media/diagnóstico por imagen , Constricción Patológica , Ultrasonografía , Encéfalo , Ultrasonografía Doppler Transcraneal , Velocidad del Flujo Sanguíneo , Angiografía CerebralRESUMEN
Cerebrovascular disease is a significant global public health concern, despite the diagnosis and treatment of stroke has made great progress in recent years, however, its mainly guided by anatomical indicators, which still needs to be further improved, and there is an urgent need to explore a more accurate and comprehensive functional imaging assessment method. Rapid development of coronary CT angiography derived fractional flow reserve (CT-FFR) has become an important technique for noninvasive evaluation of coronary artery disease, and these successful application experiences inspiried neurologists to explore the functional evaluation technique of cerebral arteries and demonstrated broad application prospects. In this paper, by analyzing and comparing the coronary CT-FFR technology, the progress, existing problems and possible solutions of the functional evaluation for cerebral arterial stenosis are discussed from the aspects of coronary CT-FFR study, cerebral artery functional evaluation study, and the comparison and consideration of cerebral arterial and coronary CT-FFR.