Clinical Presentation and Risk Factors for Poor Outcomes Among Adult Patients With Posterior Reversible Encephalopathy Syndrome: A Retrospective Cohort Study.

BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is an acute neurological condition with unknown global incidence, variable clinical presentation, and prognosis. OBJECTIVES: To describe a cohort of patients with PRES with a focus on brain magnetic resonance imaging (MRI) patterns and their relationship with short-term clinical outcomes. METHODS: Retrospective cohort study. The authors included patients if they were older than 15 years and had a PRES diagnosis on the basis of a positive brain MRI at any time during the in-hospital stay. RESULTS: Forty-four patients were included in the present analysis. The median age was 57 years (interquartile range, 32.0-68.5) and 70.5% were women. Hypertension (59.1%), history of transplantation (27.3%), previous chemotherapy (27.3%), chronic renal failure (38.6%), and autoimmune disease (15%) were the main comorbid conditions present. The classic triad of seizures, headache, and visual impairment was present in 18.0% of the cases. Eighty-six percent of patients were admitted to the intensive care unit, with 36.0% needing invasive life support. Brain MRI showed a dominant parieto-occipital pattern in 26 patients, whereas cytotoxic edema and bleeding were present in 27.3% and 29.6%, respectively. In-hospital mortality was 11.4%. The median modified Rankin Scale at hospital discharge was 1 (0-2.5). Risk factors associated with low modified Rankin Scale scores were: headache, visual impairment, and parieto-occipital pattern. Decreased level of consciousness and mechanical ventilation requirement were associated with greater discharge disability. CONCLUSIONS: Characteristic symptoms and signs of PRES and classic MRI patterns are associated with better clinical outcomes.

[Acute ischemic stroke in cancer patients. A case-control study]. / Accidente cerebrovascular isquémico en pacientes con cáncer. Un estudio caso-control.

One in 10 patients with ischemic stroke has comorbid cancer. Our goal was to compare stroke patients with cancer against those without cancer in terms of clinical and radiological features, and the underlying mechanism. We conducted a retrospective case-control study in patients admitted with ischemic stroke between July 2013 and September 2018. Cases had a concomitant diagnosis of cancer and acute ischemic stroke, controls only of ischemic stroke. Age, gender, vascular risk factors (VRF), pattern of ischemic lesion in neuroimaging, etiology and clinical outcome were compared between groups. Fifty-seven cases were identified, 61% were male (n = 35), and mean age was 75 ± 11. Fiftytwo had known oncologic disease at the onset of stroke. Most of them had solid tumors (91%, n = 52), and 54% (n = 31) had a non-metastatic tumor at the time of stroke. Prevalence of common VRF between groups was not significantly different. Previous deep venous thrombosis and pulmonary thromboembolism were more frequent in the cancer cohort (8% vs. 1%, p = 0.01). The average NIHSS was 3.8 ± 4 in the cancer group and 9 ± 7 in the control group (p = 0.01). Small artery disease as the etiology of stroke was significantly less common in the cancer group (2% vs. 26%, p = 0.001). Regarding neuroimaging, the embolic pattern was more frequent in patients with cancer (82% vs. 35%, p = 0.001). In these patients recurrence and mortality at 90 days was three and six times higher (10% vs. 3%, and 18% vs. 3%. p = 0.08 and 0.001, respectively).

Aproximadamente uno de cada 10 pacientes que sufre un accidente cerebrovascular isquémico (ACVi) padece cáncer concomitantemente. Nuestro objetivo fue evaluar características clínicoradiológicas del ACVi en pacientes con cáncer y compararlas con otros sin cáncer. Fue un estudio caso-control retrospectivo que incluyó pacientes con ACVi entre julio 2013 y septiembre 2018. Los casos tenían diagnóstico de cáncer y ACVi, y los controles solamente ACVi. Se comparó edad, sexo, factores de riesgo vascular, patrones radiológicos de lesiones, etiología y evolución clínica entre ambos grupos. Hubo 57 casos, 61% (n = 35) eran varones. La edad media fue 75 ± 11 años, sin diferencias en prevalencia de factores de riesgo vascular. En los casos hubo más pacientes con antecedentes de trombosis venosa profunda y/o tromboembolismo pulmonar (8% vs. 1%, p = 0.01). En 52 se conocía la presencia del cáncer antes del ACVi. El 91% se trató de tumores sólidos (n = 52) y en 54% el tumor no presentaba metástasis. El puntaje NIHSS promedio fue 3.8 ± 4 en los casos, y 9 ± 7 en los controles (p = 0.01). Las lesiones de pequeña arteria fueron menos frecuentes en los casos (2% vs. 26%, p = 0.001). Las lesiones de aspecto embólico fueron más comunes entre los casos (82% vs. 35%, p = 0.001). Aquellos con cáncer tuvieron menor NIHSS, menor frecuencia de lesiones de pequeña arteria, y mayor frecuencia de lesiones de aspecto embólico. La recurrencia a 90 días fue 3 veces mayor y la mortalidad 6 veces mayor en pacientes con cáncer (10% vs. 3%, y 18% vs. 3%. p = 0.08 y 0.001 respectivamente).

[Early central neurologic complications after heart transplantation are associated with higher intra-hospital mortality]. / Las complicaciones neurológicas centrales tempranas post-trasplante cardíaco se asocian a mayor mortalidad intrahospitalaria.

Neurological complications in orthotopic heart transplantation represent a major cause of morbidity and mortality despite successful transplantation. The aim of our study was to evaluate neurological complications on the outcome of patients with heart transplantation. We retrospectively studied 193 adult patients (aged = 18 years) who underwent heart transplant at Hospital Italiano in Buenos Aires from November 2014 to August 2018. We evaluated demographic and clinical vari ables and outcome of patients with and without neurological complications. We included 193 patients with a mean age of 51 ± 12 years of which 74% (n = 143) were men. The two most frequent causes that led to heart transplantation were idiopathic cardiomyopathy in 34% (n = 65) and ischemic cardiomyopathy in 29% (n = 56). Hemodynamic instability was present at the moment of transplant in 92% (n = 176) of the cases. Central neurological complications in the first week post-transplant occurred in 12% (n = 23). The most frequent were: encephalopathy (5%), subdural hematoma (2%), subarachnoid hemorrhage (2%), seizures (2%) and ischemic stroke (1%). Peripheral neuropathy was observed in 4% of cases. Hospital mortality was 11% (n = 22) and 88% (n = 170) was discharged at home. Those who presented central neurological complications had higher in-hospital mortality compared to those who did not (32% vs. 9%, p = 0.002).

Las complicaciones neurológicas posteriores al trasplante cardíaco representan una causa importante de morbimortalidad. La meta del presente estudio fue evaluar las complicaciones neurológicas (CN) en la evolución clínica de pacientes sometidos a trasplante cardíaco. Se evaluaron retrospectivamente todos los trasplantados cardíacos en el Hospital Italiano de Buenos Aires de noviembre del 2014 hasta agosto del 2018. Se evaluaron variables demográficas y clínicas, y se compararon entre los pacientes con y sin CN. Se incluyeron 193 adultos (edad = 18 años). La edad media fue de 51 ± 12 años, y 74% (n = 143) fueron varones. Las dos causas más frecuentes que llevaron a la indicación de trasplante fueron la miocardiopatía idiopática en 34% (n = 65) y la isquémica en 29% (n = 56). El 92% (n = 176) presentó inestabilidad hemodinámica al momento del trasplante. El 12% (n = 23) presentó CN centrales en la primer semana post-trasplante. Las más frecuentes fueron encefalopatía (5%), hematoma subdural (2%), hemorragia subaracnoidea (2%), convulsiones (2%), y accidente cerebrovascular isquémico (1%). En 4% se observó neuropatía periférica. La mortalidad hospitalaria fue del 11%, y 88% de los pacientes fueron dados de alta a domicilio. Los que presentaron CN centrales tuvieron mayor mortalidad intrahospitalaria en comparación a quienes no las presentaron (32% vs. 9%, p = 0.002).

Las complicaciones neurológicas centrales tempranas post-trasplante cardíaco se asocian a mayor mortalidad intrahospitalaria / Early central neurologic complications after heart transplantation are associated with higher intra-hospital mortality

Resumen Las complicaciones neurológicas posteriores al trasplante cardíaco representan una causa importante de morbimortalidad. La meta del presente estudio fue evaluar las complicaciones neurológicas (CN) en la evolución clínica de pacientes sometidos a trasplante cardíaco. Se evaluaron retrospectivamente todos los trasplantados cardíacos en el Hospital Italiano de Buenos Aires de noviembre del 2014 hasta agosto del 2018. Se evaluaron variables demográficas y clínicas, y se compararon entre los pacientes con y sin CN. Se incluyeron 193 adultos (edad ≥ 18 años). La edad media fue de 51±12 años, y 74% (n = 143) fueron varones. Las dos causas más frecuentes que llevaron a la indicación de trasplante fueron la miocardiopatía idiopática en 34% (n = 65) y la isquémica en 29% (n = 56). El 92% (n = 176) presentó inestabilidad hemodinámica al momento del trasplante. El 12% (n = 23) presentó CN centrales en la primer semana post-trasplante. Las más frecuentes fueron encefalopatía (5%), hematoma subdural (2%), hemorragia subaracnoidea (2%), convulsiones (2%), y accidente cerebrovascular isquémico (1%). En 4% se observó neuropatía periférica. La mortalidad hospitalaria fue del 11%, y 88% de los pacientes fueron dados de alta a domicilio. Los que presentaron CN centrales tuvieron mayor mortalidad intrahospitalaria en comparación a quienes no las presentaron (32% vs. 9%, p = 0.002).

Abstract Neurological complications in orthotopic heart transplantation represent amajor cause of morbidity and mortality despite successful transplantation. The aim of our study was to evaluate neurological complications on the outcome of patients with heart transplantation. We retrospectively studied 193 adult patients (aged ≥ 18 years) who underwent heart transplant at Hospital Italiano in Buenos Aires from November 2014 to August 2018. We evaluated demographic and clinical variables and outcome of patients with and without neurological complications. We included 193 patients with a mean age of 51 ± 12 years of which 74% (n = 143) were men. The two most frequent causes that led to heart transplantation were idiopathic cardiomyopathy in 34% (n = 65) and ischemic cardiomyopathy in 29% (n = 56). Hemodynamic instability was present at the moment of transplant in 92% (n = 176) of the cases. Central neurological complications in the first week post-transplant occurred in 12% (n = 23). The most frequent were: encephalopathy (5%), subdural hematoma (2%), subarachnoid hemorrhage (2%), seizures (2%) and ischemic stroke (1%). Peripheral neuropathy was observed in 4% of cases. Hospital mortality was 11% (n = 22) and 88% (n = 170) was discharged at home. Those who presented central neurological complications had higher in-hospital mortality compared to those who did not (32% vs. 9%, p = 0.002).

Accidente cerebrovascular isquémico en pacientes con cáncer. Un estudio caso-control / Acute ischemic stroke in cancer patients. A case-control study

Resumen Aproximadamente uno de cada 10 pacientes que sufre un accidente cerebrovascular isquémico (ACVi) padece cáncer concomitantemente. Nuestro objetivo fue evaluar características clínicoradiológicas del ACVi en pacientes con cáncer y compararlas con otros sin cáncer. Fue un estudio caso-control retrospectivo que incluyó pacientes con ACVi entre julio 2013 y septiembre 2018. Los casos tenían diagnóstico de cáncer y ACVi, y los controles solamente ACVi. Se comparó edad, sexo, factores de riesgo vascular, patrones radiológicos de lesiones, etiología y evolución clínica entre ambos grupos. Hubo 57 casos, 61% (n = 35) eran varones. La edad media fue 75 ± 11 años, sin diferencias en prevalencia de factores de riesgo vascular. En los casos hubo más pacientes con antecedentes de trombosis venosa profunda y/o tromboembolismo pulmonar (8% vs. 1%, p = 0.01). En 52 se conocía la presencia del cáncer antes del ACVi. El 91% se trató de tumores sólidos (n = 52) y en 54% el tumor no presentaba metástasis. El puntaje NIHSS promedio fue 3.8 ± 4 en los casos, y 9 ± 7 en los controles (p = 0.01). Las lesiones de pequeña arteria fueron menos frecuentes en los casos (2% vs. 26%, p = 0.001). Las lesiones de aspecto embólico fueron más comunes entre los casos (82% vs. 35%, p = 0.001). Aquellos con cáncer tuvieron menor NIHSS, menor frecuencia de lesiones de pequeña arteria, y mayor frecuencia de lesiones de aspecto embólico. La recurrencia a 90 días fue 3 veces mayor y la mortalidad 6 veces mayor en pacientes con cáncer (10% vs. 3%, y 18% vs. 3%. p = 0.08 y 0.001 respectivamente).

Abstract One in 10 patients with ischemic stroke has comorbid cancer. Our goal was to compare stroke patients with cancer against those without cancer in terms of clinical and radiological features, and the underlying mechanism. We conducted a retrospective case-control study in patients admitted with ischemic stroke between July 2013 and September 2018. Cases had a concomitant diagnosis of cancer and acute ischemic stroke, controls only of ischemic stroke. Age, gender, vascular risk factors (VRF), pattern of ischemic lesion in neuroimaging, etiology and clinical outcome were compared between groups. Fifty-seven cases were identified, 61% were male (n = 35), and mean age was 75 ± 11. Fiftytwo had known oncologic disease at the onset of stroke. Most of them had solid tumors (91%, n = 52), and 54% (n = 31) had a non-metastatic tumor at the time of stroke. Prevalence of common VRF between groups was not significantly different. Previous deep venous thrombosis and pulmonary thromboembolism were more frequent in the cancer cohort (8% vs. 1%, p = 0.01). The average NIHSS was 3.8 ± 4 in the cancer group and 9±7 in the control group (p = 0.01). Small artery disease as the etiology of stroke was significantly less common in the cancer group (2% vs. 26%, p = 0.001). Regarding neuroimaging, the embolic pattern was more frequent in patients with cancer (82% vs. 35%, p = 0.001). In these patients recurrence and mortality at 90 days was three and six times higher (10% vs. 3%, and 18% vs. 3%. p = 0.08 and 0.001, respectively).

Consenso sobre accidente cerebrovascular isquémico agudo / Consensus on acute ischemic stroke

El accidente cerebrovascular es la tercera causa de muerte y la primera de discapacidad en la Argentina. Los eventos isquémicos constituyen el 80% de los casos. Los accidentes vasculares cerebrales requieren la implementación de protocolos sistematizados que permitan reducir los tiempos en la atención, la morbilidad y mortalidad. En el consenso participaron especialistas de nueve sociedades médicas relacionadas con la atención de pacientes con enfermedad cerebrovascular. Se consensuó un temario separado en capítulos y para la redacción de los mismos se conformaron grupos de trabajo con miembros de diferentes especialidades médicas. Se discutió y acordó para cada tema el nivel de recomendación en base a la mejor evidencia clínica disponible para cada tópico. Se realizó una adaptación al ámbito local de las recomendaciones cuando se consideró necesario. El sistema de la American Heart Association se utilizó para redactar las recomendaciones y su grado de evidencia. La corrección y edición fue realizada por cinco revisores externos, que no participaron en la redacción y con amplia experiencia en enfermedad vascular. Finalizado el documento preliminar, se organizó una reunión general con todos los integrantes de los grupos de trabajo y los revisores para redactar las recomendaciones definitivas. El consenso abarca la atención del paciente con accidente cerebrovascular isquémico en la fase pre-hospitalaria, evaluación inicial en la central de emergencias, terapias de recanalización (trombolisis y/o trombectomía mecánica), craniectomía descompresiva, neuroimágenes y cuidados clínicos en la internación.

Stroke is the third cause of death and the first cause of disability in Argentina. Ischemic events constitute 80% of cases. It requires the implementation of systematized protocols that allow reducing the time of care, morbidity and mortality. Specialists from nine medical societies related to the care of patients with cerebrovascular disease participated in the consensus. A separate agenda was agreed upon in chapters and for the writing of them, work groups were formed with members of different medical specialties. The level of recommendation was discussed and agreed upon for each topic based on the best clinical evidence available for each of them. An adaptation to the local scope of the recommendations was made when it was considered necessary.The American Heart Association system was used to draft the recommendations and their level of evidence. The correction and editing were done by five external reviewers, who did not participate in the writing and with extensive experience in vascular pathology. Once the preliminary document was finalized, a general meeting was held with all the members of the working groups and the reviewers to reach final recommendations. The consensus covers the management of ischemic stroke in the pre-hospital phase, initial evaluation in the emergency center, recanalization therapies (thrombolysis and/ or mechanical thrombectomy), decompressive craniectomy, neuroimaging and clinical care in the hospital.

Accidente isquémico transitorio de causa hemodinámica / Transient ischemic attack of hemodynamic cause

El síncope es una perdida súbita y transitoria del estado de conciencia y el tono postural con restitución completa. Según su etiología se clasifica como reflejo (neuromediado), cardíaco, neurológico (isquemia vertebrobasilar) o indeterminado. Los síncopes neurológicos se observan en contexto de accidente cerebrovascular isquémico o accidente isquémico transitorio; frecuentemente se asocian a signos deficitarios focales. Presentamos el caso de un síncope no neurológico con signos deficitarios focales en una paciente con marcada enfermedad ateromatosa. (AU)

Syncope is the abrupt and transient loss of consciousness associated with absence of postural tone, followed by complete and usually rapid spontaneous recovery. In terms of etiology, syncope is classified as reflex (neurally mediated), cardiac, neurologic (vertebrobasilar ischemia) or indeterminate. The neurologic syncope occurs in the setting of stroke or transient ischemic attack, being most frequently associated with focal neurologic symptoms. We report a case of non-neurologic syncope followed with focal neurologic symptoms in a patient with atherosclerosis disease. (AU)

Epidemiological aspects of stroke in very old patients.

In developed and developing countries, the population of very old people (more than 80 years) is expected to increase over the coming decades. By 2050, there will be an estimated 56.9 million nonagenarians worldwide, an 800% increase compared with today. In this group, the prevalence and incidence of stroke is very high, with great impact on morbidity and mortality. Only 10% of survivors may expect desirable recovery, and over 50% results with severe disability, the majority of them requiring in-home geriatric care or admittance to nursing homes. In spite of this, clinical trials that investigate acute management and primary and secondary prevention drugs are scarce in this population because most of the main trials excluded patients over 80 years. Results in young patients can not be extrapolated. In the elderly population, decrease in hepatic and renal function, metabolic pathways disturbances, polypharmacy and cognitive decline affects the efficacy, safety and adherence to long-term treatments. In this issue of the journal, we will review the evidence of acute treatment (intravenous thrombolysis) in the reduction of the functional impact of ischemic events in the very old. We will also evaluate the different therapies (antihypertensive and hypolipidemic drugs) in primary and secondary prevention and discuss the management of desired blood pressure levels. We will analyze the safety, efficacy and tolerability of statin therapy in this special group. A deeper understanding of the characteristics of aged patients would facilitate a better management of their cerebrovascular events.

Acute management in very old patients: is thrombolysis safe?

In our analysis, patients who were treated with intravenous rt-PA had a better outcome than untreated patients, and this effect was not dependent on age. The weight of evidence to date indicates a potential for benefit in older people, and there is no a priori reason to suspect a diminished effect when compared with younger people. The risk of bleeding is similar in both groups. We believe that clinical treatment guidelines should be revised in order to remove the age restriction in the use of intravenous rt-PA acute ischemic stroke.

Quality of ischemic stroke care in emerging countries: the Argentinian National Stroke Registry (ReNACer).

BACKGROUND AND PURPOSE: Limited information is available on stroke management in developing countries. An accurate monitoring of quality of stroke care will become crucial, particularly with the emerging paradigm of pay-for-performance. Our aim was to explore the feasibility of measuring standardized indicators of quality of ischemic stroke care in acute care facilities in Argentina. METHODS: ReNACer is a prospective, multicenter, countrywide, stroke registry comprising 74 academic and nonacademic institutions in Argentina. The registry includes patient-level information on demography, clinical characteristics, diagnostic procedures, treatment, and the selected key performance indicators of quality of ischemic stroke care (access to thrombolysis or aspirin use in the acute setting, admission to designated stroke units, length of stay, risk-adjusted in-hospital pneumonia, risk-adjusted in-hospital mortality, discharge on antithrombotics, and antihypertensive agents). RESULTS: We included 1991 patients with ischemic stroke from 74 institutions in Argentina between November 2004 and October 2006. Seventy-nine per cent of the patients were prescribed antithrombotic therapy within 48 hours of admission, but only 1% received thrombolytics. No more than 5.7% were admitted to stroke units. In-hospital pneumonia was diagnosed in 14.3% of the patients and was higher in nonacademic facilities (16.4% versus 11.4%, P<0.02). The overall adjusted in-hospital mortality was 9.1%, also higher in nonacademic hospitals (10.6% versus 7.1%, P<0.008). At discharge, antithrombotics were prescribed in 90.2% and antihypertensive agents in 63.6% of the patients. CONCLUSIONS: In ReNACer, there was a limited access to stroke units and thrombolytics, and a relatively high incidence of in-hospital pneumonia. Differences in stroke care were observed between academic and nonacademic institutions. There is an urgent need to develop national stroke programs in Argentina.

Accidente cerebrovascular isquémico en mayores de 80 años / Acute ischemic stroke in patients aged 80 or older

En los pacientes de edad avanzada, el perfil de factores de riesgo vascular y el subtipo de accidente cerebrovascular (ACV) es diferente en comparación con pacientes más jóvenes. El objetivo del presente trabajo fue describir el perfil de factores de riesgo y subtipo de ACV isquémico en nuestra población de pacientes ancianos. Incluimos a pacientes mayores de 80 años con diagnóstico de ACV isquémico y ataque isquémico transitorio (AIT) entre junio de 2003 y junio de 2006. De 535 pacientes con eventos cerebrovasculares isquémicos, en 366 casos el diagnóstico fue de ACV y 169 de AIT. El 33.5% (179 pacientes) fueron mayores de 80 años. La edad media fue de 84.4 ± 4.4 años. Los factores de riesgo más frecuentes fueron: hipertensión arterial 82.7%, dislipemia 40.2% y fibrilación auricular 24.6%. El subtipo de ACV que se presentó con mayor frecuencia fue la enfermedad de pequeñas arterias en un 41.7%, seguido por el evento cardioembólico en el 19.7%, enfermedad de gran arteria 6%, otras causas en el 0.8%. De los factores de riesgo vasculares tradicionales, los más significativos fueron hipertensión e hipercolesterolemia. Estos datos son coincidentes con estudios epidemiológicos previos y explican la mayor incidencia de infartos lacunares.

Young and old age stroke groups have different vascular risk profiles for cerebral ischemic events. The objective of the study was to describe the risk factor profile and stroke subtype in this population of very elderly people. We included patients over 80 years old with diagnosis of ischemic stroke and transient ischemic attack registered between June 2003 and June 2006. We described the demographic data and subtype of ischemic stroke. Of 535 patients with cerebrovascular ischemic events, the final diagnosis was stroke in 366 cases and transient ischemic attack in 169. Of these patients 33.5% were over 80 years old (179). The mean age was 84.4 ± 4.4 years. The most frequent risk factors were: hypertension 82.7%, dyslipemia 40.2% and atrial fibrillation 24.6%. Stroke subtype was: large artery disease 6%, cardioembolic stroke 19.7%, small artery disease 41.7%, and other causes 0.8%. Among traditional risk factors for stroke in our very elderly patients, the most significant were hypertension and dyslipemia. This agrees with previous epidemiological studies. The high incidence of small artery disease in our patients may be explained by the risk factor profile.

[Acute ischemic stroke in patients aged 80 or older]. / Accidente cerebrovascular isquemico en mayores de 80 años.

Young and old age stroke groups have different vascular risk profiles for cerebral ischemic events. The objective of the study was to describe the risk factor profile and stroke subtype in this population of very elderly people. We included patients over 80 years old with diagnosis of ischemic stroke and transient ischemic attack registered between June 2003 and June 2006. We described the demographic data and subtype of ischemic stroke. Of 535 patients with cerebrovascular ischemic events, the final diagnosis was stroke in 366 cases and transient ischemic attack in 169. Of these patients 33.5% were over 80 years old (179). The mean age was 84.4 +/- 4.4 years. The most frequent risk factors were: hypertension 82.7%, dyslipemia 40.2% and atrial fibrillation 24.6%. Stroke subtype was: large artery disease 6%, cardioembolic stroke 19.7%, small artery disease 41.7%, and other causes 0.8%. Among traditional risk factors for stroke in our very elderly patients, the most significant were hypertension and dyslipemia. This agrees with previous epidemiological studies. The high incidence of small artery disease in our patients may be explained by the risk factor profile.

Proton MR spectroscopy in Wernicke encephalopathy.

Wernicke encephalopathy is caused by thiamine deficiency. Although the clinical picture has been well established for some time, clinical diagnosis is attained in only 20% of the cases. MR imaging techniques contribute to early diagnosis of Wernicke encephalopathy. We herein report MR imaging and proton MR spectroscopic findings for a patient with clinical and biochemical features consistent with Wernicke encephalopathy. Increased lactate and typical MR imaging findings are discussed in the context of the known pathophysiology of Wernicke encephalopathy.

[Cadasil: a case with molecular diagnosis]. / CADASIL: un caso con diagnóstico molecular.

CADASIL disease (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tourmier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 1996. Clinical findings depend on the age at onset. The early form of the illness is found in young patients, generally less than 30 years old, and the main clinical manifestation is a migraine headache with subcortical lesions in the white matter, while in the later form ischemic events and behavioral symptoms are predominant. Anatomo-pathological findings in CADASIL include the presence of osmophilic granular deposits in vessel walls, skin, muscles and cerebral arteries. We present a patient with CADASIL and cavernous angioma. We studied a 40-year-old woman who underwent surgery for a left temporal-parietal cavernous angioma, with aphasia as the only symptom, two years before admission. Her family history showed that her father had suffered from vascular dementia. She was admitted to our hospital with right-side hemiparesis and dysarthria. A CT scan showed the presence of ischemic vascular lesions and former surgery sequelae. The duplex scan of the neck vessels and a transesophageal echocardiogram ruled out an embolic source. Laboratory tests including VDRL, HIV, prothrombotic profile and rheumatologic screening tests were normal. An MRI in T2W and FLAIR showed the presence of multiple subcortical cerebral lesions and hyperintensity in the white matter (leukoencephalopaty). We found a left acute putaminal-capsular infarct in the diffusion-MRI. The MRA was normal. Analysis of the cerebrospinal fluid was unremarkable. A molecular DNA test was performed, and a nucleotide substitution in position 583 in exon 4 of gene Notch3 was detected. This mutation was found only in CADASIL patients. The association with cavernous angioma has not been previously reported, and we believe that it was unrelated to CADASIL, either clinically or genetically. To our knowledge, this is the first case of CADASIL diagnosed by molecular DNA test in our country.

Cadasil: um caso com diagnostico molecular / Cadasil: a case with molecular diagnosis

CADASIL include the presence of osmophilic granulateriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tourmier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 1996. Clinical findings depend on the age at onset. The early form of the illness is found in young patients, generally less than 30 years old, and the main clinical manifestation is a migraine headache with subcortical lesions in the white matter, while in the later form ischemic events and behavioral symptoms are predominant. Anatomo-pathological findings in CADASIL include the presence of osmophilic granular deposits in vessel walls, skin, muscles and cerebral arteries. We present a patient with CADASIL and cavernous angioma. We studied a 40-year-old woman who underwent surgery for a left temporal-parietal cavernous angioma, with aphasia as the only symptom, two years before admission. Her family history showed that her father had suffered from vascular dementia. She was admitted to our hospital with right-side hemiparesis and dysarthria. A CT scan showed the presence of ischemic vascular lesions and former surgery sequelae. The duplex scan of the neck vessels and a transesophageal echocardiogram ruled out an embolic source. Laboratory tests including VDRL, HIV, prothrombotic profile and rheumatologic screening tests were normal. An MRI in T2W and FLAIR showed the presence of multiple subcortical cerebral lesions and hyperintensity in the white matter (leukoencephalopaty). We found a left acute putaminal-capsular infarct in the diffusion-MRI. The MRA was normal. Analysis of the cerebrospinal fluid was unremarkable. A molecular DNA test was performed, and a nucleotide substitution in position 583 in exon 4 of gene Notch3 was detected. This mutation was found only in CADASIL patients. The association with cavernous angioma has not been previously reported, and we believe that it was unrelated to CADASIL, either clinically or genetically. To our knowledge, this is the first case of CADASIL diagnosed by molecular DNA test in our country.

Cadasil: um caso com diagnostico molecular / Cadasil: a case with molecular diagnosis

CADASIL include the presence of osmophilic granulateriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tourmier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 1996. Clinical findings depend on the age at onset. The early form of the illness is found in young patients, generally less than 30 years old, and the main clinical manifestation is a migraine headache with subcortical lesions in the white matter, while in the later form ischemic events and behavioral symptoms are predominant. Anatomo-pathological findings in CADASIL include the presence of osmophilic granular deposits in vessel walls, skin, muscles and cerebral arteries. We present a patient with CADASIL and cavernous angioma. We studied a 40-year-old woman who underwent surgery for a left temporal-parietal cavernous angioma, with aphasia as the only symptom, two years before admission. Her family history showed that her father had suffered from vascular dementia. She was admitted to our hospital with right-side hemiparesis and dysarthria. A CT scan showed the presence of ischemic vascular lesions and former surgery sequelae. The duplex scan of the neck vessels and a transesophageal echocardiogram ruled out an embolic source. Laboratory tests including VDRL, HIV, prothrombotic profile and rheumatologic screening tests were normal. An MRI in T2W and FLAIR showed the presence of multiple subcortical cerebral lesions and hyperintensity in the white matter (leukoencephalopaty). We found a left acute putaminal-capsular infarct in the diffusion-MRI. The MRA was normal. Analysis of the cerebrospinal fluid was unremarkable. A molecular DNA test was performed, and a nucleotide substitution in position 583 in exon 4 of gene Notch3 was detected. This mutation was found only in CADASIL patients. The association with cavernous angioma has not been previously reported, and we believe that it was unrelated to CADASIL, either clinically or genetically. To our knowledge, this is the first case of CADASIL diagnosed by molecular DNA test in our country. (AU)

CADASIL: un caso con diagnóstico molecular. / [Cadasil: a case with molecular diagnosis]

CADASIL disease (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tourmier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 1996. Clinical findings depend on the age at onset. The early form of the illness is found in young patients, generally less than 30 years old, and the main clinical manifestation is a migraine headache with subcortical lesions in the white matter, while in the later form ischemic events and behavioral symptoms are predominant. Anatomo-pathological findings in CADASIL include the presence of osmophilic granular deposits in vessel walls, skin, muscles and cerebral arteries. We present a patient with CADASIL and cavernous angioma. We studied a 40-year-old woman who underwent surgery for a left temporal-parietal cavernous angioma, with aphasia as the only symptom, two years before admission. Her family history showed that her father had suffered from vascular dementia. She was admitted to our hospital with right-side hemiparesis and dysarthria. A CT scan showed the presence of ischemic vascular lesions and former surgery sequelae. The duplex scan of the neck vessels and a transesophageal echocardiogram ruled out an embolic source. Laboratory tests including VDRL, HIV, prothrombotic profile and rheumatologic screening tests were normal. An MRI in T2W and FLAIR showed the presence of multiple subcortical cerebral lesions and hyperintensity in the white matter (leukoencephalopaty). We found a left acute putaminal-capsular infarct in the diffusion-MRI. The MRA was normal. Analysis of the cerebrospinal fluid was unremarkable. A molecular DNA test was performed, and a nucleotide substitution in position 583 in exon 4 of gene Notch3 was detected. This mutation was found only in CADASIL patients. The association with cavernous angioma has not been previously reported, and we believe that it was unrelated to CADASIL, either clinically or genetically. To our knowledge, this is the first case of CADASIL diagnosed by molecular DNA test in our country.