Neuromyelitis optica spectrum disorder: do patients positive and negative for anti-aquaporin-4 antibodies present distinct entities? A Colombian perspective.

INTRODUCTION: Neuromyelitis optica (NMO) is an inflammatory disease of the central nervous system characterised by attacks of optic neuritis and longitudinally extensive transverse myelitis. The discovery of anti-aquaporin-4 (anti-AQP4) antibodies and specific brain MRI findings as diagnostic biomarkers have enabled the recognition of a broader and more detailed clinical phenotype, known as neuromyelitis optica spectrum disorder (NMOSD). OBJECTIVE: This study aimed to determine the demographic and clinical characteristics of patients with NMO/NMOSD with and without seropositivity for anti-AQP4 antibodies, in 2 quaternary-level hospitals in Bogotá. METHODS: Our study included patients > 18 years of age and diagnosed with NMO/NMOSD and for whom imaging and serology results were available, assessed between 2013 and 2017 at the neurology departments of hospitals providing highly complex care. Demographic, clinical, and imaging data were gathered and compared in patients with and without seropositivity for anti-AQP4 antibodies. RESULTS: The sample included 35 patients with NMO/NMOSD; the median age of onset was 46.5 years (P25-P75, 34.2-54.0); most patients had sensory (n = 25) and motor manifestations (n = 26), and a concomitant autoimmune disease was identified in 6. Twenty patients were seropositive for anti-AQP4 antibodies. Only age and presence of optic nerve involvement showed statistically significant differences between groups (P = .03). CONCLUSIONS: Clinical, imaging, and laboratory variables showed no major differences between patients with and without anti-AQP4 antibodies, with the exception of age of onset and presence of optic nerve involvement (uni- or bilateral); these factors should be studied in greater detail in larger populations.

Cryptogenic stroke in young patients: long-term prognosis and recurrence.

BACKGROUND: Around 40% of strokes in young people are labelled as infarcts of undetermined cause. The aim of this study was to determine the image characteristics, the long-term functional outcome and recurrence after cryptogenic ischaemic stroke. METHODS: We studied ninety-eight patients under 45 years of age during a median follow up of 54 months (range 12-238), with ischaemic stroke of undetermined cause. We registered vascular risk factors, clinical syndrome, laboratory and imaging results. We used Rankin disability score to assess functional outcome. The cases were evaluated with intracranial and extracranial vascular imaging studies, echocardiogram, and at least two determinations of prothrombotic states. RESULTS: In our hospital 11% of the patients with cerebral infarction under 45 years of age were labelled as cryptogenic. The mean age of the cases was 39.5 ± 5, 48 (49%) were women, 6 (6%) had arterial hypertension, 7 (7%) prior history of migraine, 32 (33%) were active smokers, 11 (11%) had hypercholesterolemia, and 11 (11%) had alcoholism. All cases were treated with aspirin. We observed good functional outcome (Rankin 0-2) in 65 (65%) cases. The anterior circulation was the most affected (partial in 56%, total in 12%). Infarction was unique in 87 (88%) cases. Recurrence was observed in 4 (4%) cases. CONCLUSIONS: In this study cryptogenic cerebral infarctions were mostly single, had low recurrence and good functional outcome in the long-term follow-up. Total anterior circulation infarctions correlated with poor outcome.

Neuromyelitis optica spectrum disorder: Do patients positive and negative for anti-aquaporin-4 antibodies present distinct entities? A Colombian perspective. / Espectro de neuromielitis óptica: ¿seropositivo para la anticuaporina es una entidad diferente de los pacientes que son seronegativos? Una perspectiva de Colombia.

INTRODUCTION: Neuromyelitis optica (NMO) is an inflammatory disease of the central nervous system characterised by attacks of optic neuritis and longitudinally extensive transverse myelitis. The discovery of anti-aquaporin-4 (anti-AQP4) antibodies and specific brain MRI findings as diagnostic biomarkers have enabled the recognition of a broader and more detailed clinical phenotype, known as neuromyelitis optica spectrum disorder (NMOSD). OBJECTIVE: This study aimed to determine the demographic and clinical characteristics of patients with NMO/NMOSD with and without seropositivity for anti-AQP4 antibodies, in 2 quaternary-level hospitals in Bogotá. METHODS: Our study included patients > 18 years of age and diagnosed with NMO/NMOSD and for whom imaging and serology results were available, assessed between 2013 and 2017 at the neurology departments of hospitals providing highly complex care. Demographic, clinical, and imaging data were gathered and compared in patients with and without seropositivity for anti-AQP4 antibodies. RESULTS: The sample included 35 patients with NMO/NMOSD; the median age of onset was 46.5 years (P25-P75, 34.2-54.0); most patients had sensory (n = 25) and motor manifestations (n = 26), and a concomitant autoimmune disease was identified in 6. Twenty patients were seropositive for anti-AQP4 antibodies. Only age and presence of optic nerve involvement showed statistically significant differences between groups (p = .03). CONCLUSIONS: Clinical, imaging, and laboratory variables showed no major differences between patients with and without anti-AQP4 antibodies, with the exception of age of onset and presence of optic nerve involvement (uni- or bilateral); these factors should be studied in greater detail in larger populations.

Espectro de neuromielitis óptica: ¿seropositivo para la anticuaporina es una entidad diferente de los pacientes que son seronegativos? Una perspectiva de Colombia / Neuromyelitis optica spectrum disorder: Do patients positive and negative for anti–aquaporin-4 antibodies present distinct entities? A Colombian perspective

Introducción: La neuromielitis óptica es una enfermedad inflamatoria del sistema nervioso central, caracterizada por ataques de neuritis óptica y mielitis transversa longitudinalmente extensa. El descubrimiento del biomarcador diagnóstico anticuerpo anti-acuaporina-4 y los hallazgos imagenológicos en resonancia magnética cerebral han permitido el reconocimiento de un fenotipo clínico más amplio y detallado denominado espectro neuromielitis óptica. Objetivo: Determinar las características demográficas y clínicas de los pacientes diagnosticados con NMO/NMOSD, de acuerdo con la seropositividad del anticuerpo, en dos instituciones de cuarto nivel de complejidad en Bogotá. Métodos: Se realizó un estudio tipo serie de casos. Fueron incluidos aquellos pacientes > 18 años con diagnóstico de NMO/NMOSD, valorados en el Servicio de Neurología de dos hospitales de alta complejidad entre los años 2013 y 2017, con disponibilidad de estudios imagenológicos y resultados de serología. Se evaluaron variables demográficas, clínicas e imagenológicas, y se realizó un análisis de estas variables, según seropositividad del Ac-AQP4. Resultados: Se incluyeron 35 pacientes con NMO/NMOSD, la mediana de edad de inicio fue de 46,5 años (P25-P75 = 34,2-54,0), la mayoría de los pacientes tuvo manifestaciones clínicas a nivel sensitivo (n = 25) y motor (n = 26), en seis (n = 6) pacientes se identificó una enfermedad autoinmune concomitante. Se encontró seropositividad en 20 pacientes. Encontramos algunas diferencias en las características clínicas e imagenológicas, pero solo la edad y el compromiso de nervio óptico mostraron diferencia estadísticamente significativa (p = 0,03). Conclusiones: No se encontraron grandes diferencias clínicas, imagenológicas y de laboratorio, según la seropositividad del Ac-AQP4, excepto en la edad de inicio y el compromiso de nervio óptico (uni o bilateral), pero deben ser estudiadas de manera más detallada en poblaciones más amplias.(AU)

Introduction: Neuromyelitis optica (NMO) is an inflammatory disease of the central nervous system characterised by attacks of optic neuritis and longitudinally extensive transverse myelitis. The discovery of anti–aquaporin-4 (anti-AQP4) antibodies and specific brain MRI findings as diagnostic biomarkers have enabled the recognition of a broader and more detailed clinical phenotype, known as neuromyelitis optica spectrum disorder (NMOSD). Objective: This study aimed to determine the demographic and clinical characteristics of patients with NMO/NMOSD with and without seropositivity for anti-AQP4 antibodies, in 2 quaternary-level hospitals in Bogotá. Methods: Our study included patients > 18 years of age and diagnosed with NMO/NMOSD and for whom imaging and serology results were available, assessed between 2013 and 2017 at the neurology departments of hospitals providing highly complex care. Demographic, clinical, and imaging data were gathered and compared in patients with and without seropositivity for anti-AQP4 antibodies. Results: The sample included 35 patients with NMO/NMOSD; the median age of onset was 46.5 years (P25-P75, 34.2-54.0); most patients had sensory (n = 25) and motor manifestations (n = 26), and a concomitant autoimmune disease was identified in 6. Twenty patients were seropositive for anti-AQP4 antibodies. Only age and presence of optic nerve involvement showed statistically significant differences between groups (p = .03). Conclusions: Clinical, imaging, and laboratory variables showed no major differences between patients with and without anti-AQP4 antibodies, with the exception of age of onset and presence of optic nerve involvement (uni- or bilateral); these factors should be studied in greater detail in larger populations.(AU)

Aspirina frente a anticoagulación en pacientes jóvenes con infarto cerebral secundario a síndrome antifosfolípido primario / Aspirin versus anticoagulation in young patients with cerebral infarction secondary to primary antiphospholipid syndrome

Introducción. El síndrome antifosfolípido primario (SAP) es un factor de riesgo independiente para infarto cerebral. Objetivo. Evaluar el riesgo de recurrencia, comparar los diferentes tratamientos y determinar los factores de riesgo asociados con recurrencia y complicaciones hemorrágicas en pacientes con infarto cerebral y SAP. Pacientes y métodos. Los datos prospectivamente recogidos de 92 pacientes menores de 45 años (71% mujeres; media de edad: 33,8 ± 8,9 años), con diagnósticos confirmados de infarto cerebral y SAP, tratados con anticoagulantes (n = 54) o aspirina (n = 38), se analizaron restrospectivamente. El seguimiento se realizó con evaluación neurológica cada 6 a 12 meses. Las medidas de pronóstico fueron: recurrencia de infarto cerebral, hemorragia intracerebral sintomática y sangrado menor. Resultados. Durante una mediana de seguimiento de 54 meses (rango: 12-240 meses), ocurrieron ocho (9%) infartos cerebrales recurrentes, sin diferencia entre el tratamiento con aspirina (n = 0) o anticoagulantes (n = 8). La tasa anual de recurrencia fue de 0,014 personas/año de seguimiento. La historia de trombosis previa y de abortos espontáneos fue más habitual en pacientes con recurrencia. Los pacientes tratados con aspirina provenían con mayor frecuencia de medio rural. Cuatro pacientes anticoagulados desarrollaron complicaciones hemorrágicas; dos, hemorragias menores, y dos, hematomas subdurales. El 76% de los casos evolucionó con buen pronóstico funcional (escala de Rankin modificada: 0-2). Conclusión. Con las limitaciones de un estudio no aleatorizado, nuestros datos sugieren que el riesgo de infarto cerebral arterial recurrente en pacientes jóvenes con infarto cerebral secundario a SAP es bajo, no homogéneo y probablemente independiente del tipo de antitrombótico utilizado (AU)

Introduction. The primary antiphospholipid syndrome (PAS) is an independent risk factor for cerebral infarction. Aim. To evaluate the risk of recurrence, to compare different treatments and determine the risk factors associated with recurrence and hemorrhagic complications in patients with cerebral infarction and PAS. Patients and methods. Prospectively collected data from 92 patients under 45 years (71% female, mean age 33.8 ± 8.9 years) with confirmed diagnoses of cerebral infarction and PAS, treated with anticoagulants (n = 54) or aspirin (n = 38) were retrospectively analyzed. Clinical follow-up was obtained by neurological examination every 6 to 12 months. Outcome measures were: recurrence of CI, symptomatic intracerebral hemorrhage, and minor bleeding. Results. During a median follow-up of 54 months (range: 12-240 months), there were 8 (9%) recurrent cerebral infarctions, with no difference between treatment with aspirin (n = 0) or anticoagulants (n = 8). The annual rate of recurrence was 0,014 person-years of follow-up. The history of previous thrombosis and spontaneous abortions were more frequent in patients with recurrence. Aspirin-treated patients more frequently came from rural areas. Four anticoagulated patients developed bleeding complications, two minor bleeding and two subdural hematomas. 76% of the cases evolved with good outcome (modified Rankin scale: 0-2). Conclusion. With the limitations of a nonrandomized study, our data suggest that the risk of recurrent arterial cerebral infarction in young patients with cerebral infarction secondary to PAS is low, probably non-uniform and independent of the type of antithrombotic (AU)

Infarto cerebral criptogénico en pacientes jóvenes. Pronóstico y recurrencia a largo plazo / Cryptogenic stroke in young patients: Long-term prognosis and recurrence

Antecedentes: En menores de 45 años, el infarto cerebral (IC) criptogénico representa hasta el 40% de los casos. El objetivo de la presente serie es determinar la tasa de recurrencia, la evolución clínica funcional a largo plazo y las características de imagen de pacientes menores de 45 años, con IC criptogénico. Métodos: 98 pacientes con diagnóstico confirmado de IC criptogénico fueron seguidos durante una mediana de 54 meses (rango de 12 a 238). Registramos los datos demográficos, factores de riesgo, hallazgos clínicos, de laboratorio y de imagen, así como las complicaciones y la evolución funcional. La evaluación de los casos incluyó estudios de imagen vascular intra y extracraneal, ecocardiograma y dos determinaciones de estudios protrombóticos. Resultados: Esta serie representa el 11% de los casos de IC en jóvenes en nuestro hospital. La edad promedio de los casos fue de 39,5±5, 48 (49%) fueron mujeres, 6 (6%) tenían hipertensión arterial, 11 (11%) hipercolesterolemia, 7 (7%) antecedente de migraña, 32 (33%) de tabaquismo activo y 11 (11%) de alcoholismo. Todos los casos fueron manejados con aspirina. Se observó buen pronóstico funcional (Rankin 0 a 2) en 65 (66%) casos y recurrencia en 4 (4%). La circulación anterior (parcial en 56%, total 12%) fue la más afectada y en 87 (88%) casos el infarto fue único. Conclusiones: En esta serie, los IC criptogénicos fueron mayoritariamente únicos, con baja recurrencia y buen pronóstico funcional a largo plazo. Los infartos totales de circulación anterior se correlacionaron con mal pronóstico (AU)

Background: Around 40% of strokes in young people are labelled as infarcts of undeterminedcause. The aim of this study was to determine the image haracteristics, the long-term functional outcome and recurrence after cryptogenic ischaemic stroke. Methods: We studied ninety-eight patients under 45 years of age during a median follow up of 54 months (range 12-238), with ischaemic stroke of undetermined cause. We registered vascular risk factors, clinical syndrome, laboratory and imaging results. We used Rankin disability score to assess functional outcome. The cases were evaluated with intracranial and extracranialvascular imaging studies, echocardiogram, and at least two determinations of prothromboticstates. Results: In our hospital 11% of the patients with cerebral infarction under 45 years of age were labelled as cryptogenic. The mean age of the cases was 39.5±5, 48 (49%) were women, 6(6%) had arterial hypertension, 7 (7%) prior history of migraine, 32 (33%) were active smokers,11 (11%) had ypercholesterolemia, and 11 (11%) had alcoholism. All cases were treated withaspirin. We observed good functional outcome (Rankin 0-2) in 65 (65%) cases. The anteriorcirculation was the most affected (partial in 56%, total in 12%). Infarction was unique in 87(88%) cases. Recurrence was observed in 4 (4%) cases.Conclusions: In this study cryptogenic cerebral infarctions were mostly single, had lowrecurrence and good functional outcome in the long-term follow-up. Total anterior circulationinfarctions correlated with poor outcome (AU)