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Síndrome de paquetas pegajosas: reporte de caso
(Los autores, 2023) Casares-Fallas, Daniel; Balmaceda-Meza, Andrea
El Síndrome de Plaquetas Pegajosas es un trastorno autosómico dominante caracterizado por alteraciones de la agregación plaquetaria en respuesta a la epinefrina y/o el fosfato de adenosina, el cual favorece fenómenos trombóticos arteriales y venosos recurrentes. Se presenta el caso clínico de una paciente de 33 años que consulta por dolor abdominal crónico de características inespecíficas a la que se le documenta por medio de TAC de abdomen una trombosis del eje espleno portal, la paciente se ingresa al Servicio de Medicina Interna para completar estudios por trombosis venosa en sitio atípico y posterior a múltiples estudios se diagnóstica Síndrome de Plaquetas Pegajosas. El objetivo de este artículo es proporcionar una revisión del tema para tomar en consideración esta enfermedad dentro de los diagnósticos diferenciales, en especial cuando los estudios por trombofilias salen negativos, hay trombosis recurrentes o fallo al tratamiento
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Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience
(Los autores, 2022) Badilla‑Porras, R; Echeverri‑McCandless, A; Weimer, J. M; Ulate‑Campos, A; Soto‑Rodríguez, A; Gutiérrez‑Mata, A; Hernández‑Con, L; Bogantes‑Ledezma, S; Balmaceda‑Meza, A; Brudvig, J; Sanabria‑Castro, A
Background: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), progressive neurodegeneration, and neurological symptoms. In 2002, a disease-causing NCL mutation in the CLN6 gene was identified (c.214G > T) in the Costa Rican population, but the frequency of this mutation among local Batten disease patients remains incompletely characterized, as do clinical and demographic attributes for this rare patient population. Objective: To describe the main sociodemographic and clinical characteristics of patients with a clinical diagnosis for Batten Disease treated at the National Children’s Hospital in Costa Rica and to characterize via molecular testing their causative mutations. Methods: DNA extracted from buccal swabs was used for CLN6 gene sequencing. Participants’ sociodemographic and clinical characteristics were also obtained from their medical records. Results: Nine patients with a clinical diagnosis of Batten disease were identified. Genetic sequencing determined the presence of the previously described Costa Rican homozygous mutation in 8 of 9 cases. One patient did not have mutations in the CLN6 gene. In all cases where the Costa Rican CLN6 mutation was present, it was accompanied by a substitution in intron 2. Patients were born in 4 of the 7 Costa Rican provinces, with an average onset of symptoms close to 4 years of age. No parental consanguinity was present in pedigrees. Initial clinical manifestations varied between patients but generally included: gait disturbances, language problems, visual impairment, seizures and psychomotor regression. Cortical and cerebellar atrophy was a constant finding when neuroimaging was performed. Seizure medication was a common element of treatment regimens. Conclusions: This investigation supports that the previously characterized c.214G > T mutation is the most common causative NCL mutation in the Costa Rican population. This mutation is geographically widespread among Costa Rican NCL patients and yields a clinical presentation similar to that observed for CLN6 NCL patients in other geographies
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Paroxysmal events during prolonged video-electroencephalography monitoring in refractory epilepsy
(Los autores, 2019) Sanabria-Castro, Alfredo; Henríquez-Varela, F; Monge-Bonilla, C; Lara-Maier, S; Sittenfeld-Appel, M
Introducción: La inexistencia de signos clínicos que diferencien entre crisis epilépticas y episodios paroxísticos no epilépticos hace necesario utilizar métodos diagnósticos específicos, principalmente en pacientes refractarios al tratamiento farmacológico. La monitorización prolongada con videoelectroencefalografía durante las crisis epilépticas evidencia descargas epileptiformes en el EEG ictal y constituye una prueba fundamental para su diagnóstico. La presente investigación pretende caracterizar los eventos paroxísticos y comparar los patrones encontrados en pacientes con diagnóstico de epilepsia refractaria. Métodos: Se realizó un estudio y análisis retrospectivo a partir de los registros médicos de la monitorización prolongada con video EEG de 91 pacientes diagnosticados con epilepsia refractaria durante su internamiento. Resultados: Durante el videoelectroencefalograma prolongado el 76,9% (n = 70) de los pacientes presentaron eventos paroxísticos. El número promedio de eventos fue 3,4 (±2,7) y su duración fue muy variable. La mayoría de los pacientes (80,0%) presentó las crisis durante vigilia y los principales tipos de eventos registrados fueron: focales con alteración de la conciencia, evolutivos a crisis convulsivas bilaterales y crisis psicógenas no epilépticas. Considerando la totalidad de los eventos paroxísticos, no se objetivan diferencias en cuanto al número o tipo de eventos descritos según el sexo, la edad de inicio de la enfermedad o el sexo y la duración de los eventos, o al número de eventos según el tipo. Las crisis psicógenas no epilépticas se registran predominantemente en vigilia, presentan mayor duración, se inician más tardíamente y ocurren principalmente en mujeres. Conclusiones: Los eventos paroxísticos observados durante la monitorización prolongada con videoelectroencefalograma de pacientes internados con epilepsia refractaria muestran patrones y características similares a los descritos en otras latitudes
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Neuromyelitis Optica Spectrum Disorder in Central America and the Caribbean: A Multinational Clinical Characterization Study
(Los autores, 2022) Gracia, Fernando; Ramírez, Deyanira; Parajeles-Vindas, Alexander; Díaz, Alejandro; Díaz de la Fé, Amado; Ramírez Sánchez, Nicia Eunice; Castro Escobar, Romy; García Valle, Luis Alberto; Weiser, Roberto; Santos, Biany; Candelario, Awilda; Benzadon, Aron; Araujo, Pahola; Valderrama, Carlos; Larreategui, Mario; Carrillo, Gabriela; Gracia, Karla; Vázquez-Céspedes. Johana; Monterrey-Alvarez, Priscilla; Carazo-Céspedes, Kenneth; Sanabria-Castro, Alfredo; Miranda-Loria, Gustavo; Balmaceda-Meza, Andrea; Portillo Rivera, Ligia Ibeth; Olivera Leal, Irma; Rodriguez Salinas, Luis Cesar; Thompson, Arnold; López Torres, Ericka; Pereira, Daniel Enrique; Zepeda, Carolina; Abdón López, César; Cornejo Valse, Ernesto Arturo; Corea Urbina, Karla Zinica; Urrutia, Marco Antonio; Van Sijtveld, Ivonne; Armien, Blas; Rivera, Victor M
Here, a study of NMOSD in Central America and the Caribbean with a multinational collaborative, multicentric and descriptive approach involving 25 institutions from 9 countries is presented. Demographics, clinical manifestations, expanded disability scale status (EDSS), brain and spinal cord MRI, serological anti-AQP4-IgG and anti-MOG-IgG antibodies, and cerebrospinal fluid (CSF) oligoclonal bands were included. A central serological repository utilized the cell-based assay. The specimens outside of this network employed diverse methodologies. Data were collected at the Gorgas Commemorative Institute of Health Studies (ICGES), Panama, and included 186 subjects, of which 84% were females (sex ratio of 5.6:1). Mestizos constituted 72% of the study group. The median age was 42.5 years (IQR: 32.0–52.0). Associated autoimmune diseases (8.1%) were myasthenia gravis, Sjögren’s syndrome and systemic lupus erythematosus. The most common manifestation was optic neuritis-transverse myelitis (42.5%). A relapsing course was described in 72.3% of cases. EDSS scores of 0–3.5 were reported in 57.2% of cases and higher than 7.0 in 14.5%. Positive anti-AQP4-IgG antibody occurred in 59.8% and anti-MOG-IgG antibody in 11.5% of individuals. Antibody testing was lacking for 13.4% of patients. The estimated crude prevalence of NMOSD from Panama and the Dominican Republic was 1.62/100,000 (incidence of 0.08–0.41) and 0.73/100,000 (incidence 0.02–0.14), respectively. This multinational study contributes additional insights and data on the understanding of NMOSD in this Latin American region
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National alliance for Wilson’s disease: health policy in Costa Rica
(Los autores, 2017) Hevia-Urrutia, Francisco; Alvarado-Echeverría, Ileana; Sanabria-Castro, Alfredo; Sánchez-Molina, Marta; Meza-Sierra, Luis; Parajeles-Vindas, Alexander; Méndez-Blanca, Oscar; Sánchez-Siles, Álvaro; Saborío-Rocafort, Manuel; Barguil-Gallardo, Marcela; Chavarría-Quirós, Iliana; Monge-Bonilla, Cecilia
Wilson’s disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in the liver and brain. Mutations in the ATP7B gene on chromosome 13 cause Wilson’s disease. If left untreated it will cause liver failure, neurological damage, and will be life threatening. It is considered a rare disease afflicting approximately 1 in 30,000 persons worldwide, although this rate is similar in the different countries some places show higher incidence rates. Since Costa Rica reports the highest number of cases per population, essential public health initiatives that promote wellbeing, prevent disease complications, and prolong life among the affected population have been carried out during the last decades. The most recent lead in this matter is the conformation of the Costa Rica’s National Alliance for Wilson’s disease whose main objective is to provide practical, operational, timely and relevant guidance to patients, families, and healthcare professionals in the region for early diagnosis and treatment. The development and implementation of the National Alliance for Wilson’s disease activities is crucial because it will reaffirm that early intervention and appropriate treatment, will reduce if not eliminate the burden of Wilson’s disease