Ataxia episódica tipo 2 en una familia latinoamericana
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Date
2024
Journal Title
Journal ISSN
Volume Title
Publisher
Sociedad Chilena de Pediatria
Abstract
La ataxia episódica tipo 2 (AE2) es un trastorno autosómico dominante poco común y subdiagnosticado, causado por variantes patogénicas de CACNA1A. AE2 se presenta con episodios de ataxia que duran horas y puede ir acompañado de mareos, y nistagmo. La acetazolamida es eficaz en la mitad de los casos, y se ha utilizado una combinación de acetazolamida y levetiracetam para tratar a algunos pacientes adultos. Objetivo: Reportar 3 pacientes portadores de AE2, tratados con éxito con una combinación de acetazolamida y levetiracetam. Caso Clínico: Tres miembros de una familia tuvieron episodios recurrentes de inestabilidad de la marcha, que duraban minutos y ocurrían variasveces por semana. Se evidenció heterogeneidad fenotípica intrafamiliar en manifestaciones clínicas tales como discapacidad intelectual, migraña, epilepsia y nistagmo. Después de un extenso estudio y un seguimiento de más de cinco años, se identificó una nueva variante patogénica en CACNA1A, NM_001127221.1:c.1580T>G (p.Leu527*), asociada con AE2. Los tres pacientes respondieron parcialmente al tratamiento con acetazolamida; por lo que se añadió levetiracetam en dosis bajas a dos de ellos, lo que redujo drásticamente los síntomas. Conclusiones: Describimos una familia chilena con AE2. El estudio genético permitió obtener un diagnóstico preciso e iniciar un manejo adecuado con acetazolamida. Como segunda línea, levetiracetam fue eficaz. Se necesitan más estudios para evaluar la eficacia de combinar levetiracetam con acetazolamida en pacientes pediátricos y adultos, o del uso de levetiracetam como monoterapia.
Episodic ataxia type 2 (EA2) is a rare and underdiagnosed autosomal dominant disorder caused bypathogenic variants of the CACNA1A gene. EA2 presents with episodes of ataxia lasting for hours andmay be accompanied by dizziness and nystagmus. Acetazolamide is effective in half of the cases, and acombination of acetazolamide and levetiracetam has been used to treat some adult patients. Objective: To report 3 patients with EA2, successfully treated with a combination of acetazolamide and levetiracetam. Clinical Case: Three members of a family had recurrent episodes of gait instability, lasting minutes and occurring several times per week. Intrafamilial phenotypic heterogeneity was evident in clinical manifestations such as intellectual disability, migraine, epilepsy, and nystagmus. After an extensive study and a follow-up of more than five years, a new pathogenic variant in the CACNA1A gene, NM_001127221.1:c.1580T>G (p.Leu527*), associated with EA2, was identified. The three patients responded partially to treatment with acetazolamide; therefore, low-dose levetiracetam was added to two of them, which drastically reduced symptoms. Conclusions: A Chilean family with EA2 is reported. The genetic study allowed for obtaining an accurate diagnosis and initiating appropriate management with acetazolamide. As a second line, levetiracetam was effective. Further studies are needed to evaluate the efficacy of combining levetiraceta
Episodic ataxia type 2 (EA2) is a rare and underdiagnosed autosomal dominant disorder caused bypathogenic variants of the CACNA1A gene. EA2 presents with episodes of ataxia lasting for hours andmay be accompanied by dizziness and nystagmus. Acetazolamide is effective in half of the cases, and acombination of acetazolamide and levetiracetam has been used to treat some adult patients. Objective: To report 3 patients with EA2, successfully treated with a combination of acetazolamide and levetiracetam. Clinical Case: Three members of a family had recurrent episodes of gait instability, lasting minutes and occurring several times per week. Intrafamilial phenotypic heterogeneity was evident in clinical manifestations such as intellectual disability, migraine, epilepsy, and nystagmus. After an extensive study and a follow-up of more than five years, a new pathogenic variant in the CACNA1A gene, NM_001127221.1:c.1580T>G (p.Leu527*), associated with EA2, was identified. The three patients responded partially to treatment with acetazolamide; therefore, low-dose levetiracetam was added to two of them, which drastically reduced symptoms. Conclusions: A Chilean family with EA2 is reported. The genetic study allowed for obtaining an accurate diagnosis and initiating appropriate management with acetazolamide. As a second line, levetiracetam was effective. Further studies are needed to evaluate the efficacy of combining levetiraceta
Description
Keywords
Ataxia, CACNA1, Calcium Channels, Levetiracetam, Nystagmus, Nistagmo, Canales de calcio