CADASIL é a causa mais frequente de acidente vascular cerebral e demência hereditários. São poucas as publicações sobre esta doença na América do Sul. Aqui descrevemos dados clínicos e demográficos de 13 pacientes (10 famílias) da Argentina com CADASIL.Métodos Prontuários médicos testes diagnósticos e história familiar de pacientes com CADASIL foram revisados.Resultados Treze pacientes com CADASIL (10 famílias) foram incluídos. Todos os pacientes tinha ancestralidade europeia. A apresentação inicial foi acidente vascular cerebral na maioria dos pacientes (n = 11). Pacientes com acidente vascular cerebral depois desenvolveram alterações cognitivas (n = 9), enxaqueca com aura (n = 1), apatia (n = 4) e depressão (n = 6). Os achados de imagem característicos da RM foram na cápsula externa e no lobo temporal. Dois pacientes morreram por hemorragia intracerebral.Conclusão Este é o primeiro relato de série de casos de pessoas não relacionadas entre si que apresentavam CADASIL na América do Sul, discutindo ancestralidade. Uma vez que a ascendência europeia tem prevalência variada em diferentes países da América do Sul, é possível que esta seja uma variável de incidência de CADASIL nesta região.

CADASIL is the most common cause of hereditary stroke and vascular dementia. Published information about this disease in South America is scant. We describe clinical and demographic characteristics of 13 patients (10 families) with CADASIL from Argentina.Methods Medical records, diagnostic tests and family history of patients with CADASIL were reviewed.Results Thirteen patients with CADASIL (10 families) were included. All patients had European ancestry. Initial presentation was stroke in most patients (n = 11). Stroke patients later developed cognitive complaints (n = 9), migraine with aura (n = 1), apathy (n = 4) and depression (n = 6). External capsule and temporal lobe involvement on MRI were characteristic imaging findings. Two patients died after intracerebral hemorrhage.Conclusion This is the first report of non-related patients with CADASIL in South America addressing ancestry. Since European ancestry is not highly prevalent in all South American countries, there may be variable incidence of CADASIL within this region.

Overall mortality due to stroke has decreased in the last three decades probable due to a better control of vascular risk factors. In-hospital mortality of stroke patients has been estimated to be between 6 and 14% in most of the series reported. However, data from recent clinical trials suggest that these figures may be substantially lower. Data from FLENI Stroke Data Bank and institutional mortality records between 2000 and 2010 were reviewed. Ischemic stroke subtypes were classified according to TOAST criteria and hemorrhagic stroke subtypes were classified as intraparenchymal hematoma, aneurismatic subarachnoid hemorrhage, arterio-venous malformation, and other intraparenchymal hematomas. A total of 1514 patients were studied. Of these, 1079 (71%) were ischemic strokes,39% large vessels, 27% cardioembolic, 9% lacunar, 14% unknown etiology, and 11% others etiologies. There were 435 (29%) hemorrhagic strokes, 27% intraparenchymal hematomas, 30% aneurismatic subarachnoid hemorrhage, 25% arterio-venous malformation, and 18% other intraparenchymal hematomas. Moreover, 38 in-hospital deaths were recorded (17 ischemic strokes and 21 hemorrhagic strokes), accounting for 2.5% overall mortality (1.7% in ischemic strokes and 4.8% in hemorrhagic strokes). No deaths occurred associated with the use of intravenous fibrinolytics occurred. In our Centre in-hospital mortality in patients with stroke was low. Management of these patients in a Centre dedicated to neurological diseases along with a multidisciplinary approach from medical and non-medical staff trained in the care of cerebrovascular diseases could, at least in part, account for these results.

La mortalidad global por accidente cerebrovascular (ACV) ha disminuido en las últimas tres décadas, probablemente debido a un mejor control de los factores de riesgo vascular. La mortalidad hospitalaria por ACV ha sido tradicionalmente estimada entre 6 y 14% en la mayoría de las series comunicadas. Sin embargo, los datos de ensayos clínicos recientes sugieren que esta cifra sería sustancialmente menor. Se revisaron datos de pacientes internados con diagnóstico de ACV del Banco de Datos de Stroke de FLENI y los registros institucionales de mortalidad entre los años 2000 y 2010. Los subtipos de ACV isquémicos se clasificaron según criterios TOAST y los ACV hemorrágicos en hematomas intrapanquimatosos, hemorragias subaracnoideas aneurismáticas, malformaciones arteriovenosas y otros hematomas intraparenquimatosos. Se analizaron 1514 pacientes, 1079 (71%) con ACV isquémico (grandes vasos 39%, cardioembólicos 27%, lacunares 9%, etiología indeterminada 14%, otras etiologías 11%) y 435 (29%) con ACV hemorrágico (intraparenquimatosos 27%, hemorragia subaracnoidea 30%, malformaciones arteriovenosas 25% y otros hematomas espontáneos 18%). Se registraron 38 muertes intrahospitalarias (17 ACV isquémicos y 21 ACV hemorrágicos), representando una mortalidad global del 2.5% (1.7% en ACV isquémicos y 4.8% en ACV hemorrágicos). No se registraron muertes asociadas al uso de fibrinolíticos endovenosos. La mortalidad intrahospitalaria en pacientes con ACV isquémico y hemorrágico en nuestro centro fue baja. El manejo en un centro dedicado a las enfermedades neurológicas y el enfoque multidisciplinario por personal médico y no médico entrenado en el cuidado de la enfermedad cerebrovascular podrían explicar, al menos en parte, estos resultados.

Clinical trials in academic centers with high selected surgeons have demonstrated the effectiveness of carotid endarterectomy (CE) in addition to best medical treatment in symptomatic and asymptomatic patients with moderate to severe stenosis. International guidelines recommend that the procedure should be done in centers with morbidity and mortality rates of less than 6% for symptomatic and 3% for asymptomatic patients. We evaluated the morbidity and mortality of CE in our institution. This was defined by the presence of stroke, myocardial infarction and/or death within 30 days of surgery. Surgery was indicated in symptomatic patients with stenosis greater than 50%. For asymptomatic or symptomatic patients with stenosis ≤ 50% treatment was decided on a case-by-case basis. All patients were examined by a neurologist with and a cardiologist before and after the procedure. Intraoperative monitoring with transcranial Doppler was routinely used in patients with adequate ultrasonic window. We evaluated 306 procedures. No deaths occurred. Perioperative morbidity was 2.6% for both, symptomatic and asymptomatic subjects. These numbers compared favorably with those reported by other centers in Latin America and Europe. In conclusion, CE can be performed in routine clinical practice with morbidity and mortality results within those recommended by international guidelines.

La endarterectomía carotídea (EC) en adición al mejor tratamiento médico mostró reducción del riesgo de eventos cerebrovasculares en pacientes sintomáticos y asintomáticos con estenosis moderada-grave del vaso en ensayos clínicos en centros académicos con cirujanos altamente seleccionados. Las principales guías internacionales recomiendan que el procedimiento se realice en centros con morbi-mortalidad auditada menor al 6% para pacientes sintomáticos y 3% para asintomáticos. Evaluamos la morbi-mortalidad peri-procedimiento en nuestro centro. Esta fue definida como la presencia de accidente cerebrovascular, infarto de miocardio y/o muerte dentro de los 30 días de la cirugía. Se indicó el procedimiento en pacientes sintomáticos con estenosis > 50%. En pacientes asintomáticos o sintomáticos con estenosis ≤ 50% se decidió el tratamiento sobre una base caso por caso. Todos los pacientes fueron examinados por un neurólogo y un cardiólogo antes y después de la EC. Se utilizó en forma rutinaria monitoreo intraoperatorio con Doppler transcraneano en los pacientes con adecuada ventana ultrasónica. Se evaluaron 306 endarterectomías carotídeas. No se registraron muertes. La morbilidad perioperatoria fue de 2.6% tanto para individuos sintomáticos como asintomáticos. Estos índices se compararon favorablemente con informes de otros centros de Latinoamérica y Europa. En conclusión, este informe muestra que la EC puede realizarse en la práctica clínica cotidiana con morbi-mortalidad peri-procedimiento dentro de los niveles recomendados por las guías internacionales.