Clinical characteristics and follow-up study of aquaporin-4 antibody negative binocular optic neuritis / 中国医师进修杂志

Objective To investigate the clinical and imaging features of the aquaporin-4 (AQP4)antibody-negative binocular optic neuritis and to analyze the predictive factors of visual function outcome.Methods Fifty-eight patients with AQP4-negative binocular optic neuritis were reviewed and followed up from January 2014 to December 2015.Patients at baseline and at the end of follow-up were evaluated for visual function and neurological examination.All patients underwent optic nerve and brain MRI, cerebrospinal fluid and routine laboratory tests.Results AQP4 antibody-negative binocular optic neuritis accounted for 9.4%(58/615)of the total optic neuritis in the same period.At baseline, 99 eyes (85.3%,99/116)had best corrected visual acuity<0.1.At the end of follow-up, 31 eyes(26.7%,31/116) had best corrected visual acuity < 0.1. There were 43 cases (74.1%, 43/58) with multi-segment involvement of optic nerve at the baseline.Baseline visual acuity(P=0.005), early treatment response (P=0.011), and segment numbers of optic nerve involvement(P=0.025)were independently associated with end-point outcome of visual function.Forty-nine patients(84.5%,49/58)showed monophasic course in (3.1 ± 0.9) years follow-up period, 7 cases (12.1%, 7/58) had recurrence, and 2 cases (3.4%, 2/58) converted to neuromyelitis optic spectrum disorder (NMOSD). Conclusions AQP4 antibody-negative binocular optic neuritis is common and the recovery of visual function is not satisfied. Baseline visual function and the length of optic lesion in MRI is related to the end-point prognosis. Most patients performs the single phase course during the follow-up period.

Espectro de neuromielitis óptica en Colombia, primera caracterización clínico imagenológica en tres centros de Bogotá / Spectrum of optic neuromyelitis in colombia, first characterization clinical and radiological in three centers of Bogotá

Introducción: La neuromielitis óptica, es un síndrome clínico caracterizado por la asociación de mielitis transversa y neuritis óptica, hoy en día es reconocida como una enfermedad cuya fisiopatología, clínica, hallazgos en imágenes diagnósticas de laboratorio y tratamiento son específicos. Objetivo: describir las características clínicas, métodos diagnósticos y tratamiento de los pacientes con neuromielitis óptica (NMO) en tres centros asistenciales de cuarto nivel de la ciudad de Bogotá. Materiales y métodos: Diseño: se realizó un estudio de tipo serie de casos. Participantes: se incluyeron casos consecutivos de pacientes de cualquier género, entre los 19 y los 48 años, clasificados en dos grupos según los criterios del Consenso Internacional para el Diagnóstico de Neuromielitis óptica 2015, NMOSD con AQP4-IgG positivos, y NMOSD con AQP4-IgG negativos. Los pacientes fueron reclutados en tres centros hospitalarios, desde junio de 2013 a mayo de 2015. Análisis estadístico: la descripción de las variables se realizó por frecuencias absolutas y relativas, los análisis se realizaron en el paquete estadístico STATA 13®. Resultados: participaron 22 pacientes, con una edad mediana de 36 años, la mayoría mujeres, la mediana de inicio de síntomas fue de 31 años (RIC 24-39). La técnica para el diagnóstico más utilizada fue IFI, la clínica más frecuente del evento inicial fue mielitis y de neuritis óptica en las recaídas posteriores, la mitad de los pacientes presentaron dos o menos eventos, ningún paciente cumplió criterios para otra enfermedad sistémica. Se observaron escalas de discapacidad mas altas en el grupo con AQP4 positivos, y mas bajas en los que recibieron corticoide al inicio. Discusión y conclusiones: esta caracterización constituye la primera descripción de esta enfermedad en Colombia, nuestros hallazgos son similares a los obtenidos en otras poblaciones, algunos datos relevantes requieren más estudios.

Introducción: Optic neuromyelitis, a clinical syndrome characterized by the association of transverse myelitis and optic neuritis, is nowadays recognized as a disease whose pathophysiology, clinical features, and diagnostic and laboratory imaging findings are specific. Objective: To describe the clinical characteristics, diagnostic methods and treatment of patients with neuromyelitis Optica (NMO) in three health centers fourth level of the City of Bogota. Materials and method: Design: A case series type was performed. Participants: consecutive cases of patients of either gender were included between 19 and 48 years, divided into two groups according to the International Consensus criteria for the diagnosis of NMO 2015, NMOSD with AQP4-IgG positive, and NMOSD with AQP4- IgG negative. Patients were recruited from three hospitals from June 2013 to May 2015. Statistical analysis: The description of the variables was performed by absolute and relative frequencies, analyzes were performed in STATA statistical package 13®. Results: A total of 22 patients with a median age of 36, mostly women, median onset was 31 years (IQR 24-39). The technique most commonly used for diagnosis was IFI, the most frequent initial clinical event was myelitis and optic neuritis in subsequent relapses, half of the patients had two or fewer events, no patients met criteria for other systemic disease. higher disability scales were observed in the group with positive AQP4, and lower in those receiving corticosteroids at baseline. Discussion and conclusions: This characterization is the first description of this disease in Colombia, our findings are similar to those obtained in other populations, some relevant data require further study.

Cerebrospinal fluid analysis in the context of CNS demyelinating diseases / Analise do liquido cefalorraquiano no contexto das doencas desmielinizantes do SNC

The central nervous system demyelinating diseases are a group of disorders with different etiologies, characterized by inflammatory lesions that are associated with loss of myelin and eventually axonal damage. In this group the most studied ones are multiple sclerosis (MS), neuromyelitis optic (NMO) and acute disseminated encephalomyelitis (ADEM). The cerebrospinal fluid is essential to differentiate between these different syndromes and to define multiple sclerosis, helping to assess the probability of Clinical Isolated Syndrome turn into multiple sclerosis.

As doenças desmielinizantes do sistema nervoso central são um grupo de desordens de diferentes etiologias, caracterizadas por lesões inflamatórias associadas a perda da mielina e eventualmente dano axonal. Neste grupo de doenças, as mais estudadas são a esclerose múltipla (EM), a neuromielite óptica e a encefalomielite aguda disseminada. O estudo de liquido cefalorraquiano é essencial para o diagnóstico diferencial entre as diferentes síndromes e para a definição de EM, ajudando a estimar a probabilidade da transformação da síndrome clínica isolada em EM.

Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report / Anticorpo da neuromielite óptica em neuropatia óptica hereditária de Leber: relato de caso

Neuromyelitis optica antibody (or aquaporin-4 antibody) is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

Anticorpo da neuromielite óptica (ou anticorpo aquaporina-4) é um marcador sorológico bem estabelecido associado à síndrome de alto risco para neuromielite óptica, doença inflamatória desmielinizante, caracterizada por ocorrência bilateral, simultânea de neurite óptica ou por episódio isolado de mielite transversa com achado de lesões espinais longitudinais extensas. Por outro lado, a neuropatia óptica hereditária de Leber é uma doença primariamente hereditária que afeta todos os tecidos do corpo e sua apresentação clínica envolve o nervo óptico e, eventualmente, a medula espinal. Aspectos clínicos comuns sugerem que neuromielite óptica e neuropatia óptica hereditária de Leber possam atingir os mesmos órgãos. O caso descrito enfatiza a coexistência de marcadores sorológicos das duas doenças e sugere a necessidade de investigação futura desta apresentação clínica atípica para confirmar ou não esta associação.