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Una variante de CSPP1 asociada con disfunción metabólica en el síndrome de Joubert: un informe de caso
Liany F Acosta-Paguada1, Milca S Velásquez-Hernandez1, Paola Sophia Bonilla Medina2,3
1Faculty of Medicine, Catholic University of Honduras, San Pedro Sula, Honduras.
Journal of medical case reports
|September 2, 2025
Resumen
El síndrome de Joubert, una ciliopatía rara, puede implicar una disfunción metabólica en las variantes de CSPP1. Este caso destaca la resistencia a la insulina y la enfermedad hepática en un paciente con síndrome de Joubert relacionado con CSPP1, ampliando sus síntomas conocidos.
Área de la Ciencia:
- La genética
- Neurología
- Endocrinología
Sus antecedentes:
- El síndrome de Joubert es una ciliopatía con hipoplasia cerebelosa y el signo de diente molar.
- Las variantes patógenas en CSPP1 causan aproximadamente el 3% de los casos de síndrome de Joubert.
- La disfunción metabólica no se ha descrito previamente en el síndrome de Joubert relacionado con CSPP1.
Objetivo del estudio:
- Para describir una nueva presentación del síndrome de Joubert relacionado con CSPP1.
- Investigar el papel potencial de CSPP1 en la homeostasis metabólica.
Principales métodos:
- Informe de caso de una mujer de 16 años con síndrome de Joubert relacionado con CSPP1.
- Evaluación clínica que incluye neuroimágenes y pruebas genéticas.
- Evaluación de los parámetros metabólicos y de la salud hepática.
Principales resultados:
- El paciente presentaba resistencia a la insulina, diabetes de aparición temprana, dislipidemia y enfermedad hepática esteatótica asociada a la disfunción metabólica.
- La neuroimagen confirmó la hipoplasia del vermis cerebeloso.
- Las pruebas genéticas identificaron una variante heterocigótica patógena de CSPP1 (c.3052C>T, p.Gln1018).
- El paciente carecía de los síntomas neurológicos típicos del síndrome de Joubert.
Conclusiones:
- Este caso amplía el espectro fenotípico conocido del síndrome de Joubert relacionado con CSPP1.
- CSPP1 puede desempeñar un papel en la homeostasis metabólica.
- Se necesita más investigación para dilucidar los mecanismos subyacentes al papel de CSPP1 en la disfunción metabólica.
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