Signo de la cruz en una paciente peruana con ataxia espinocerebelosa tipo 2: reporte de un caso
DOI:
https://doi.org/10.20453/rnp.v86i3.4561Palabras clave:
signo de la cruz, SCA2, ataxia espinocerebelosa tipo 2, PerúResumen
La ataxia espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa hereditaria autosómica dominante, causada por una expansión anormal del trinucleótido CAG en el gen ATXN2. La SCA2 se presenta habitualmente en la edad adulta, con ataxia progresiva asociada a neuropatía periférica, alteración de movimientos oculares,
parkinsonismo, entre otros síntomas. Exámenes auxiliares aplicables incluyen pruebas bioquímicas, neuroimágenes, como resonancia magnética cerebral, y estudio genético molecular. Describimos, por primera vez en la población peruana, el caso de una mujer de mediana edad con diagnóstico confirmado de SCA2, cuya resonancia magnética cerebral muestra el signo de la cruz (o hot cross bun sign).
Citas
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