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Complejo Carney familiar con accidente cerebrovascular isquémico: un informe de caso y una revisión de la literatura
Tingting Luo1, Mengxing Yin1, Lijin Li1
1Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Frontiers in oncology
|September 3, 2025
Resumen
El complejo de córnea (CNC), un trastorno genético raro, puede manifestarse con mixomas cardíacos que conducen al accidente cerebrovascular. El diagnóstico temprano a través de pruebas genéticas es crucial para las familias afectadas.
Área de la Ciencia:
- La genética
- En el campo de la oncología
- Cardiología
Sus antecedentes:
- El complejo de Carney (CNC) es un trastorno autosómico dominante raro.
- Se caracteriza por lesiones pigmentadas, mixomas cardíacos y tumores.
- Involucra múltiples sistemas endocrinos y no endocrinos.
Objetivo del estudio:
- Para reportar un caso familiar de CNC presentándose con un derrame cerebral.
- Destacar la importancia del reconocimiento y el diagnóstico tempranos.
- Revisar las características clínicas y las bases genéticas del CNC.
Principales métodos:
- Evaluación clínica y estudios por imágenes.
- Examen histopatológico.
- Análisis genético de los miembros afectados de la familia.
Principales resultados:
- Se identificó una mutación patógena de PRKAR1A en individuos afectados.
- Proband se presentó con un accidente cerebrovascular secundario al mixoma cardíaco.
- Las características clínicas son consistentes con la presentación típica del CNC.
Conclusiones:
- Se sospecha que el CNC en pacientes jóvenes con mixoma cardíaco y accidente cerebrovascular.
- Mantener la vigilancia para los síntomas de múltiples sistemas y antecedentes familiares.
- Las pruebas genéticas facilitan el diagnóstico y el tratamiento tempranos.
Palabras clave:
El complejo de CarneyPRKAR1A (en inglés)Apoplejía isquémica embolicaNeoplasia endocrina múltipleel myxomaMás Videos Relacionados
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