Case series of Creutzfeldt-Jakob disease in a third-level hospital in Quito.

BACKGROUND: Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder that affects mammals and humans. The prevalence of this disease in the United States is 0.5 to 1 per million inhabitants. So far in Ecuador, we do not know what the prevalence or incidence is, and only one case report has been written. CASE PRESENTATION: We present a case series of Creutzfeldt-Jakob disease in a third-level hospital in Quito. The average age of symptom onset in our patients was 58.8 years. The male to female ratio was 1:1. Two patients began with cognitive/behavioral symptoms, while 4 patients began with focal neurological signs; 1 case with ataxia, 2 with gait disorders and 1 with vertigo and headache. All of the patients had the clinical features established by the World Health Organization. In addition, the entire cohort was positive for the 14-3-3 protein in cerebrospinal fluid, and had high signal abnormalities in caudate and putamen nucleus in DWI and FLAIR IRM. Only in one case, did we reach a definitive diagnosis through a pathological study. All other cases had a probable diagnosis. In this series of cases, 6 out of 6 patients died. The average time from the onset of the symptoms to death in this cohort was 13 months. CONCLUSION: This is the first report of a series of cases of Creutzfeldt-Jakob disease in Quito. Although definitive diagnosis must be histopathological, there are ancillary tests currently available that have allowed us to obtain a diagnosis of the disease.

Impact of Rituximab on relapse rate and disability in an Ecuadorian cohort of patients with neuromyelitis optica spectrum disorders.

BACKGROUND: Neuromyelitis Optica Spectrum Disorder (NMOSD) is a severe inflammatory demyelinating disease of the central nervous system that often causes disability. Based on evidence from prospective and retrospective studies, Rituximab (RTX) has been used as the first-line of therapy in NMOSD. Nevertheless, evidence of the impact of RTX on relapse rate and disability in Ecuadorian patients with NMOSD is lacking. OBJECTIVE: To evaluate the impact of RTX in an Ecuadorian cohort of patients with NMOSD. MATERIALS AND METHODS: A retrospective study was conducted in a cohort of patients with NMOSD who received treatment with RTX in a third-level hospital in Quito, Ecuador. Digital medical records of NMOSD patients were reviewed to attain sociodemographic data, disease characteristics, and treatment with RTX. The annualized relapse rate ARR, as well as the degree of disability measured through the expanded disability scale (EDSS), was established before and after treatment. RESULTS: Twenty-three patients with NMOSD treated with RTX were included, the mean age of onset of the disease was 37.2 years (range, 13-64.5). The average duration of disease was 8.5 years (range, 1.3-34.4). Positivity for antibodies against aquaporin-4 (AQP4-IgG) was identified in 78% of the patients. The mean duration of the treatment with RTX was 40 months (range, 12-61). After the RTX therapy, the number of relapses was reduced in 91% (21/23) of cases. The annualized relapsed rate (ARR) was reduced with RTX from 1.89 to 0.12 (p <0.001). The mean EDSS was also reduced from 4.8 to 3.9 (p = 0.014). In all patients, the mean EDSS was reduced or stabilized with RTX. Overall, the drug was well tolerated, the most frequent adverse events were infections which were present in 65.2% of cases. CONCLUSIONS: Though with the limitations of and observational study, our data support RTX effectiveness and safety in an Ecuadorian cohort of patients with NMOSD.

Clinical and radiological profile of neuromyelitis optica spectrum disorders in an Ecuadorian cohort.

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is a complex disease characterized by a severe inflammation of the central nervous system (CNS). This disease typically manifests with recurrent optic neuritis (ON) and acute transverse myelitis (ATM). The clinical and radiological spectrum of NMOSD is little known in Latin America (LATAM) and few reports have been published in the literature so far. In Ecuador, no reports on NMOSD have been published. For this reason we aimed to assess the demographic, clinical and imaging characteristics of patients with NMOSD from third level hospitals from Ecuador. METHODS: This is a descriptive study in which we assessed medical reports of patients with inflammatory demyelinating diseases who were attended in third level hospitals from Ecuador in 2017. Then we applied the 2015 diagnostic criteria, those patients who met the new NMOSD diagnostic criteria were selected and analyzed. Additionally, exploratory sub-analyses were subsequently carried out. RESULTS: We identified 59 patients with NMOSD, the relative frequency of NMOSD was 15.9%. The multiple sclerosis (MS) /NMOSD ratio was 5.2:1. Twenty four percent of patients were newly defined as having NMOSD when 2015 criteria was applied. The median time to diagnoses was shorter by the 2015 criteria than 2006 criteria (p<0.001). NMOSD was more prevalent in women (female/male ratio 4.4:1). The disease onset was more frequent at the fourth decade of life. The most common symptoms at the disease onset were ON and the association of ON with ATM. The mean of expanded disability status scale (EDSS) was 4.8 (SD±1.8). Concomitant autoimmune diseases were infrequent in this population (11.9%). The brain magnetic resonance imaging (MRI) abnormalities were present in 25.7% of patients at disease onset. Spinal cord MRI showed longitudinally extensive transverse myelitis (LETM) in 91.5% of cases. Recurrent NMOSD was frequent in this cohort (88%). Positivity for antibodies against aquaporin-4 (AQP4-IgG) which was measured through indirect immunofluorescence assay (IIF) was identified in 81% of the patients tested. Patients with seronegative AQP4-IgG had higher grade of disability than seropositive patients (p<0.05). Ninety eight percent of patients received treatment with immunosuppressive drugs. Three patients died due to gastric cancer (1 patient) and infectious diseases (2 patients). CONCLUSIONS: This is the first descriptive study in an Ecuadorian cohort of patients with NMOSD. We show a wide epidemiological, clinical and radiological spectrum of NMOSD.

Prevalence of multiple sclerosis in Cuenca, Ecuador.

BACKGROUND: Cuenca, a city in the Andean Region of southern Ecuador, has 591,996 inhabitants. A decade-old study showed the prevalence of multiple sclerosis in Cuenca was 0.75 cases per 100,000 inhabitants but no new epidemiological studies in this city have been performed since then. The aim of this study, conducted in 2016, was to update the prevalence records of multiple sclerosis in Cuenca. METHODS: We performed a descriptive cross-sectional study in which we investigated prevalence rates in November of 2016. We estimated the prevalence of multiple sclerosis by cross-matching registries from the two neurological referral hospitals in Cuenca. RESULTS: A total of 23 records were obtained from the two sources. The estimated prevalence was 3.88 per 100,000 inhabitants (95% confidence interval: 3.83-3.94). The disease was predominant among women (60%). The mean age of this cohort was 37 years (standard deviation ±12.4). Of the cases, 78% were relapsing-remitting multiple sclerosis. The mean Expanded Disability Status Scale score was 2.5. CONCLUSIONS: This study is an update to the first study conducted 10 years ago and shows the prevalence of multiple sclerosis in Cuenca has increased. However, the prevalence of multiple sclerosis is still low and very similar to that reported in neighbouring countries.

El Perfil Epidemiológico Y Clínico De La Esclerosis Múltiple En El Ecuador / The Clinical And Epidemiological Profile Of Multiple Sclerosis In Ecuador

Resumen En el Ecuador ha habido un importante incremento en el número de publicaciones sobre Esclerosis Múltiple (EM) en los últimos años. Este interés por conocer el comportamiento clínico y epidemiológico de la enfermedad nos ha permitido establecer semejanzas y diferencias con otras cohortes de pacientes con EM que provienen de regiones en donde la prevalencia de la enfermedad es alta. El Ecuador sigue siendo un país de baja prevalencia, los estudios han demostrado que la misma fluctúa entre 3 a 5 casos por 100.000 habitantes. El comportamiento epidemiológico es muy similar a la de cohortes europeas por ejemplo el sexo femenino es el principalmente afectado. Sin embargo, el comportamiento clínico difiere en lo que respecta a deterioro cognitivo, fatiga siendo éstos menos frecuentes. Aún se desconoce el impacto de la vitamina D en nuestros pacientes debido a que, solo un estudio ha sido llevado a cabo. Al parecer, existe una alta prevalencia de deficiencia e insuficiencia de vitamina D en los pacientes ecuatorianos pero no se traduce en un incremento de prevalencia o discapacidad como ocurre en poblaciones europeas. A pesar de que tenemos una mejor comprensión de la enfermedad en el país, más estudios son necesarios y es imperativo incluir a todos los pacientes ecuatorianos con esclerosis múltiple con el fin de mejorar nuestro conocimiento sobre el comportamiento de esta patología en nuestra región.

Abstract In recent years, the number of publications on Multiple Sclerosis (MS) from Ecuador has seen a significant increase. As a result, the research on the clinical and epidemiological behaviour of the disease has allowed us to make comparisons with other cohorts of patients with MS that come from regions where the prevalence of the disease is high. Nevertheless, Ecuador is still a country in which the prevalence of MS is low with a prevalence that fluctuates between 3 to 5 cases per 100,000 inhabitants. The epidemiological behaviour of MS is very similar to that of european cohorts, for example female patients are the most affected. However, the clinical behaviour of multiple sclerosis differs in terms of cognitive impairment and fatigue being less frequent. The impact of vitamin D on patients with MS is still unknown as only one study has been carried out. This study show that there is a high prevalence of vitamin D deficiency and insufficiency in ecuadorian patients, but this does not translate into an increase in prevalence or disability as it does in european populations. Although we have a better understanding of the disease in the country, more studies are necessary, and it is imperative that all ecuadorian patients with MS be included in future studies in order to improve our knowledge about the behaviour of this disease in our region.

Factores pronósticos de la Esclerosis Múltiple / Prognostic factors in Multiple Sclerosis

Resumen La Esclerosis Múltiple es una enfermedad inflamatoria y degenerativa del Sistema Nervioso Central que afecta a la población adulta joven. La prevalencia de esta entidad es heterogénea en el mundo y baja en el Ecuador. El diagnóstico se basa en los criterios de McDonald 2017. Una vez que el diagnóstico se ha establecido, es necesario determinar si los pacientes tienen factores de mal pronóstico los cuales van a generar un impacto en el tipo de tratamiento a elegir. Al momento, se han estudiado factores pronósticos epidemiológicos, clínicos, biomoleculares y de imagen los cuales nos permiten predecir si la enfermedad tiene un comportamiento agresivo o por el contrario un curso benigno. El número de lesiones en las imágenes de resonancia magnética cerebral, la presencia de lesiones en tronco encefálico y médula espinal son los factores que han demostrado tener un impacto en la progresión de discapacidad. La presencia de bandas oligoclonales en el líquido cefalorraquídeo tiene un rol fundamental en la conversión de un síndrome clínico aislado en esclerosis múltiple clínicamente establecida. Los niveles bajos de vitamina D ha demostrado estar asociado con mal pronóstico pero su aplicabilidad en países como el Ecuador es aún tema de investigación.

Abstract Multiple sclerosis is an inflammatory and degenerative disease of the central nervous system which affects young adults. The prevalence of multiple sclerosis in the world is heterogeneous and is low in Ecuador. The diagnosis is based on the McDonald 2017 criteria. Once the diagnosis has been made, it is necessary that any negative factors which will impact the type of treatment used be identified. At this time, factors such as epidemiological, clinical, biomolecular, and magnetic resonance images, which will allow us to identify if the case is aggressive or benign, are studied. The number of lesions shown in a brain MRI, the presence of lesions in the brain stem and spinal cord are factors which have been demonstrated to have an impact on the progression of disability. The presence of oligoclonal bands in the cerebrospinal fluid has a fundamental role in the conversion of an isolated clinical syndrome to multiple sclerosis. Low levels of vitamin D have been associated with a negative prognosis, however how important vitamin D is in the prognosis of MS in countries such as Ecuador is still an area to be studied.