Epidemiological findings of neuromyelitis optica spectrum disorders in a Venezuelan study.

BACKGROUND: Neuromyelitis optica spectrum disorders (NMOSD), is a rare autoimmune inflammatory disease of the central nervous system. Since the countries of Latin America (LATAM) show contrast in geographic, social, environmental factors, and genetic heterogeneity, the information about NMOSD epidemiology in the region allows a better understanding of the disease and its clinical outcome. OBJECTIVES: To determine the prevalence, relative frequency (RF), and clinical characteristics of NMOSD in a multiethnic Venezuelan cohort of patients with demyelinating disorders. METHODS: We conducted a retrospective descriptive multicenter study of hospital case records of individuals with an established diagnosis of MS and NMOSD in the National Program for Multiple sclerosis (MS) from 2011 to 2018. We selected those NMOSD cases based on the 2006 Wingerchuck and the 2015 International panel for the diagnosis of Neuromyelitis optica (IPND) criteria. RESULTS: We identified 249 patients with NMOSD. The prevalence was 2.11 per100,000 individuals (95% confidence interval (CI)1.85 2.37), the RF was 23%, and the MS/NMOSD ratio was 3.2:1. The average disease onset occurred by the fourth decade of life (34±14.8 years of age); with a strong female predominance (female to male ratio: 4:1). Mestizos constituted 86,7% of this cohort. Most of the patients presented initially with simultaneous optic neuritis (ON) and acute transverse myelitis (ATM) and a recurrent course was registered in 82.3% of cases. The mean of the expanded disability status scale (EDSS) was 3.5 (IQR 2-7). Abnormal brain and spine MRI were present in 47.8% and 81.1% of patients, respectively. Antibodies against aquaporin-4 (AQP4) which were measured through a cell-based assay were positive in 55.3% of the individuals tested. The most used immunosuppressant agent was Azathioprine (57.4%). CONCLUSION: NMOSD in Venezuela affects mainly young Mestizo women and shows one of the highest relative frequency in the region. Planning and developing healthcare programs for underserved populations as well as more comprehensive LATAM studies are required to identify the distribution and variations of its epidemiological picture.

Emergencias neuropediatricas en niños atendidos en el Hospital Universitario de Maracaibo / Neuropaediatric emergencies in children admitted to the Hospital Universitario, Maracaibo, Venezuela

Durante los últimos años se ha observado un incremento en el número de consultas en los servicios de emergencias pediátricas de forma proporcional al incremento de las consultas por motivos neurológicos. Objetivos: Analizar la demanda de la actividad asistencial neuropediátrica y conocer los motivos de consultas más frecuentes y su distribución epidemiológica. Métodos: Estudio observacional de cohorte histórica mediante el registro prospectivo durante un año en el servicio de Emergencia Pediátrica del Hospital Universitario de Maracaibo. Resultados: Se solicitó evaluación neuropediátrica a 172 pacientes constituyendo el 0,17 % de todas las emergencias entre 0 y 15 años de edad, predominando los lactantes (39%) y niños varones (53,5%). Las crisis convulsivas son el motivo de consulta más frecuente (45%), seguidas del retraso psicomotor y la sospecha de encefalopatías estáticas. La epilepsia fue el principal diagnóstico de ingreso (23%) y egreso (25%) seguido de meningitis bacteriana aguda. Conclusiones: Las urgencias neurológicas constituyen un porcentaje significativo del total de las urgencias pediátricas. Son muchos los motivos de consulta y es rol del pediatra de emergencias solicitar la valoración especializada. Las crisis convulsivas, retraso psicomotor, infecciones del sistema nervioso central, síncope y cefalea constituyen los cinco principales motivos de consulta. Sin embargo la demora psicomotora no constituye una urgencia, por lo que el pediatra debe estar en capacidad de tomar la decisión acertada a quien debe derivar y solicitar la consulta por el especialista de forma inmediata.

In recent years there has been an increase in the number of consultations in pediatric emergency services in proportion to the increase in consultations for neurological reasons.Objectives: To analyze the demand of neuropaediatric care, and to determine the most frequent reasons for neuropediatric consultations. Methods: Historical cohort observational study by means of a prospective registry during one year in the Pediatric Emergency Service of the University Hospital of Maracaibo, Venezuela. Results: Neuropediatric evaluation was requested for 172 patients, 0.17% of all emergencies, ages from 0 to 15 years, predominantly infants (39%) and boys (53.5%). Seizures were the most frequent reason for consultation (45%), followed by psychomotor retardation and suspected static encephalopathies. Epilepsy was the most frequent diagnosis at admission (23%) and discharge (25%), followed by acute bacterial meningitis. Conclusions: Neurological emergencies constitute a significant percentage of all pediatric emergencies. There are many reasons for consultation and the pediatrician's role is to decide who deserves specialized neurologic care or who may be derived for an outpatient emergency assessment. Seizures, psychomotor retardation, central nervous system infections, syncope and headache, were the five main reasons for consultation; however psychomotor delay does not constitute an emergency, so the pediatrician should be able to decide which patient should be derived to the neuropediatrician.

Espectro de enfermedades desmielinizantes en pediatria experiencia Hospital Universitario de Maracaibo / Spectrum of pediatric experience demyelinating diseases Hospital Universitario de Maracaibo

El espectro de enfermedades desmielinizantes constituye un grupo de entidades clínicas e imagenológicas que presentan una base inmunológica autoinmune donde encontramos más frecuentemente en niños la Encefalomielitis Aguda Diseminada (EMAD), seguida de Neuritis Óptica (NO), Mielitis Transversa (MT), Neuromielitis Óptica (NMO), y Esclerosis Múltiple (EM). Objetivo: Describir el perfil clínico y epidemiológico de las enfermedades desmielinizantes en la edad pediátrica. Métodos: Estudio observacional, descriptivo, incluyendo todos los pacientes menores de 18 años, valorados en el servicio de Neurología Pediátrica del Hospital Universitario de Maracaibo, entre enero 2014 a marzo 2015 con diagnòstico confirmado de enfermedad desmielinizante. Resultados: 11 pacientes entre 1 y 14 años presentaron diagnóstico de enfermedades desmielinizantes predominando el género femenino (64%), la mayoría del Municipio Maracaibo del Estado Zulia. La entidad más frecuente fue EMAD (64%); la clínica predominante fue alteración del estado de conciencia tipo somnolencia (55%). Se presentó un pico en el mes de febrero para la presentación con predominio en el grupo etario adolescentes (37%). Cien porciento de los pacientes presentaron imágenes sugestivas de lesión de sustancia blanca. Conclusión: Las enfermedades desmielinizantes son una realidad en pediatría, siendo en este grupo etario la EMAD la entidad más frecuente. Dada la variedad clínica se hace necesario el conocimiento de estas entidades a fin de poder indicar tratamientos oportunos y adecuados.

The spectrum of demyelinating disease is a group of clinical and imaging entities that have an autoimmune immunological basis, among which the most often described in children is Acute Disseminated Encephalomyelitis (ADEM), followed by optic neuritis (NO), transverse myelitis (MT), optical neuromyelitis (NMO) and Multiple Sclerosis (MS). Objective: To describe the clinical and epidemiological profile of demyelinating diseases in children. Methods: Observational descriptive study including all patients less than 18 years of age, who attended the department of Pediatric Neurology, University Hospital of Maracaibo, between January 2014 and March 2015 with the diagnosis of demyelinating disease. Results: 11 patients between 1 and 14 years (64% females) had a diagnosis of demyelinating diseases. The most common condition was EMAD (64%). The predominant symptoms were altered state of consciousness, type drowsiness (55%). A peak in frequency occurred during February for the age group of adolescents (37%). All patients had images suggestive of white matter injury. Conclusion: Demyelinating diseases are a reality in pediatrics, with EMAD as the most frequent entity. Because of the clinical variety of these pathologies, an adequate knowledge of their presentation is necessary in order to prescribe timely and appropriate treatment.

Central Nervous System Idiopathic Inflammatory Demyelinating Disorders in South Americans: A Descriptive, Multicenter, Cross-Sectional Study.

The idiopathic inflammatory demyelinating disease (IIDD) spectrum has been investigated among different populations, and the results have indicated a low relative frequency of neuromyelitis optica (NMO) among multiple sclerosis (MS) cases in whites (1.2%-1.5%), increasing in Mestizos (8%) and Africans (15.4%-27.5%) living in areas of low MS prevalence. South America (SA) was colonized by Europeans from the Iberian Peninsula, and their miscegenation with natives and Africans slaves resulted in significant racial mixing. The current study analyzed the IIDD spectrum in SA after accounting for the ethnic heterogeneity of its population. A cross-sectional multicenter study was performed. Only individuals followed in 2011 with a confirmed diagnosis of IIDD using new diagnostic criteria were considered eligible. Patients' demographic, clinical and laboratory data were collected. In all, 1,917 individuals from 22 MS centers were included (73.7% female, 63.0% white, 28.0% African, 7.0% Mestizo, and 0.2% Asian). The main disease categories and their associated frequencies were MS (76.9%), NMO (11.8%), other NMO syndromes (6.5%), CIS (3.5%), ADEM (1.0%), and acute encephalopathy (0.4%). Females predominated in all main categories. The white ethnicity also predominated, except in NMO. Except in ADEM, the disease onset occurred between 20 and 39 years old, early onset in 8.2% of all cases, and late onset occurred in 8.9%. The long-term morbidity after a mean disease time of 9.28±7.7 years was characterized by mild disability in all categories except in NMO, which was scored as moderate. Disease time among those with MS was positively correlated with the expanded disability status scale (EDSS) score (r=0.374; p=<0.001). This correlation was not observed in people with NMO or those with other NMO spectrum disorders (NMOSDs). Among patients with NMO, 83.2% showed a relapsing-remitting course, and 16.8% showed a monophasic course. The NMO-IgG antibody tested using indirect immunofluorescence (IIF) with a composite substrate of mouse tissues in 200 NMOSD cases was positive in people with NMO (95/162; 58.6%), longitudinally extensive transverse myelitis (10/30; 33.3%) and bilateral or recurrent optic neuritis (8/8; 100%). No association of NMO-IgG antibody positivity was found with gender, age at onset, ethnicity, early or late onset forms, disease course, or long-term severe disability. The relative frequency of NMO among relapsing-remitting MS (RRMS) + NMO cases in SA was 14.0%. Despite the high degree of miscegenation found in SA, MS affects three quarters of all patients with IIDD, mainly white young women who share similar clinical characteristics to those in Western populations in the northern hemisphere, with the exception of ethnicity; approximately one-third of all cases occur among non-white individuals. At the last assessment, the majority of RRMS patients showed mild disability, and the risk for secondary progression was significantly superior among those of African ethnicity. NMO comprises 11.8% of all IIDD cases in SA, affecting mostly young African-Brazilian women, evolving with a recurrent course and causing moderate or severe disability in both ethnic groups. The South-North gradient with increasing NMO and non-white individuals from Argentina, Paraguay, Brazil and Venezuela confirmed previous studies showing a higher frequency of NMO among non-white populations.

Epilepsia mioclónica juvenil: estudio de 13 pacientes venezolanos / Juvenile myoclonic epilepsy: estudy on 13 Venezuelan patients

La epilepsia mioclónica juvenil (EMJ) es un síndrome hereditario no progresivo caracterizado por convulsiones con sacudidas mioclónicas bilaterales, únicas o repetitivas, de predominio en brazos. Analizar las características clínicas y electroencefalográficas en pacientes con diagnóstico de EMJ. Se revisaron las historias clínicas de 13 pacientes evaluados en el Hospital Clínico de Maracaibo entre 1990 y 1999 quienes reunieron los criterios diagnósticos de EMJ. Analizamos los siguientes parámetros clínicos y electroencefalográficos: sexo, antecedentes personales y familiares, edad de comienzo, semiología, distribución, duración y frecuencia de las crisis, examen neurológico, tiempo de seguimiento y evolución. Nueve pacientes eran varones (69,2 por ciento) y 4 mujeres (30,8 por ciento. Tiempo de seguimiento de 2 a 9 años (promedio 4.3 años). Las convulsiones se iniciaron entre los 12 y 16 años, con una edad promedio de 14 años. La crisis fueron tonicoclónicas generalizadas en el 100 por ciento de los casos. Todos los pacientes presentaron sacudidas mioclónicas matutinas y el examen neurológico resultó normal. Tres pacientes tenían antecedentes personales de convulsiones febriles y cuatro tenían antecedentes familiares de epilepsia. El estudio electroencefalográfico (EEG) interictal fue anormal en todos los casos revelando un patrón de descargas de punta-onda o polipunta-onda con distribución generalizada. La EMJ representa una forma de descarga de comienzo en la adolescencia que afecta con mayor frecuencia a varones y está asociada a una historia familiar de convulsiones. Su curso es benigno en la mayoría de los pacientes tratados con valproato, pero las recidivas son comunes al descontinuar la medicación