ADOPA
Publicado: 20-08-2025
DOI: https://doi.org/10.58994/adopa.v3i2.60
CAPOS/CAOS: un raro síndrome neurológico infradiagnosticado en la infancia. Reporte de caso y revisión de la literatura
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Resumen
El síndrome CAPOS/CAOS (Cerebellar Ataxia, Areflexia, Pes cavus, Optic Atrophy, and Sensorineural hearing loss) es una enfermedad genética autosómica dominante poco frecuente, asociada con la mutación c.2452G>A (p.Glu818Lys) en el gen ATP1A3, con apenas 30 casos reportados en la literatura. Se caracteriza por episodios de ataxia desencadenados por fiebre, acompañados de alteraciones visuales, auditivas y del tono muscular. Presentamos el caso de un lactante de 3 meses con manifestaciones neurológicas atípicas en el contexto de encefalopatía, diagnosticado mediante secuenciación genética con una mutación patogénica en ATP1A3, confirmada como de novo. Este caso resalta la importancia del diagnóstico molecular temprano para evitar confusión con otras entidades neurológicas más comunes.
CAPOS/CAOS syndrome (Cerebellar Ataxia, Areflexia, Pes cavus, Optic Atrophy, and Sensorineural hearing loss) is a rare autosomal dominant genetic disorder associated with the c.2452G>A (p.Glu818Lys) mutation in the ATP1A3 gene, with only 30 cases reported in the literature. It is characterized by episodes of ataxia triggered by fever, accompanied by visual, auditory, and muscle tone disturbances. We present the case of a 3-month-old infant with atypical neurological manifestations in the context of encephalopathy, diagnosed by genetic sequencing with a pathogenic mutation in ATP1A3, confirmed as de novo. This case highlights the importance of early molecular diagnosis to avoid confusion with other more common neurological entities.
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Referencias
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