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La pérdida recesiva de la función de PI4K2A causa una encefalopatía discinética del desarrollo y epiléptica con
Reza Maroofian1, Juan Darío Ortigoza-Escobar2,3,4, Pooja Rohilla5
1Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Resumen
La discinesia orolingüe es un signo clave de trastornos relacionados con PI4K2A y otras afecciones del desarrollo neurológico. Reconocer este trastorno del movimiento puede ayudar al diagnóstico en los niños afectados.
Área de la Ciencia:
- Neurogenética
- Trastornos del movimiento
- Neurología pediátrica
Sus antecedentes:
- Las variantes bialélicas de pérdida de función en el gen PI4K2A están relacionadas con trastornos del desarrollo neurológico.
- Los síntomas incluyen convulsiones y trastornos del movimiento, especialmente discinesia orofacial.
- La discinesia orolingüe es poco reconocida en los trastornos del desarrollo neurológico pediátrico (NDD).
Objetivo del estudio:
- Establecer la discinesia orolingüe como una característica central del trastorno relacionado con PI4K2A (PI4K2A-RD).
- Investigar la prevalencia de la discinesia orolingüe en otras NDD.
Principales métodos:
- Se describieron dos nuevas familias con PI4K2A-RD.
- Se revisaron los datos clínicos de cuatro casos reportados previamente.
- Se realizó una búsqueda en la literatura de NDD asociados con la discinesia orolingüe.
Principales resultados:
- Todas las personas con deficiencia de PI4K2A presentaron discinesia orolingüe.
- Otros síntomas comunes incluyen retraso en el desarrollo, anormalidades del movimiento y convulsiones.
- La revisión de la literatura indicó una subnotificación frecuente de la discinesia orolingüe en los NDD.
Conclusiones:
- La discinesia orolingüe es un signo clínico importante, pero poco reconocido, en PI4K2A-RD.
- Este signo tiene un valor diagnóstico potencial para PI4K2A-RD y otras afecciones neurogenéticas.
Palabras clave:
Discinesia oral y lingüísticaSe incluyen los siguientes elementos:encefalopatías del desarrollo y epilépticasLas variantes genéticasTrastornos del desarrollo neurológicotrastornos del movimiento pediátricoMás Videos Relacionados
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