Palabras clave
Ataxia
Ciliopatías
Enfermedades cerebelosas
Hipotonía
Cómo citar
Resumen
Introducción. El síndrome de Joubert es una ciliopatía caracterizada por la presencia del signo del diente molar en resonancia magnética o tomografía computerizada. La afectación clásica consiste en hipotonía, retraso del neurodesarrollo, ataxia, apraxia oculomotora y patrón respiratorio anómalo.
Desarrollo. Descrito por primera vez en 1969, el espectro del síndrome de Joubert se ha visto ampliado en las últimas décadas a raíz de las técnicas de secuenciación de nueva generación y la mejoría de las técnicas de neuroimagen. Las manifestaciones clínicas son muy heterogéneas, incluso dentro de un mismo genotipo y misma familia, y en la mayoría de los pacientes combinan síntomas neurológicos con afectación multisistémica a diversos niveles. Su diagnóstico es clínicorradiológico, con confirmación genética. No existe un tratamiento específico, y el manejo suele ser complejo e implica involucrar a diversos especialistas. Conclusiones. El síndrome de Joubert es una entidad infradiagnosticada, y es fundamental el conocimiento de sus manifestaciones clínicorradiológicas para poder detectar los casos. El papel del diagnóstico genético es clave para ofrecer consejo a las familias, así como para orientar la posible evolución en determinados genotipos. A la hora del manejo en la práctica clínica, es necesario un enfoque multidisciplinar para poder abordar las distintas esferas en las que estos pacientes pueden presentar problemas de salud.
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