Presentación atípica de síndrome de CamuratiEngelmann en una paciente femenina colombiana. Reporte de caso

  • Liliana Patricia Ramírez-Zuluaga Universidad de Caldas
  • Mario Iván Ruano-Restrepo Universidad de Caldas
  • Juan David Osorio-Bermúdez Universidad de Caldas
  • Jhony Alejandro Díaz-Vallejo Universidad de Caldas

Resumen

El síndrome de Camurati-Engelmann, también conocido como displasia diafisaria progresiva, es una enfermedad rara, autosómica dominante y con una prevalencia de uno por cada millón de habitantes. Genera mutaciones del factor de crecimiento transformante beta, que participa en la proliferación ósea. Son frecuentes las manifestaciones osteomusculares y neurológicas, con escasas expresiones de laboratorio. El diagnóstico se basa en la clínica, los hallazgos radiológicos y la confirmación genética; el tratamiento se dirige al control sintomático y el pronóstico es incierto. La presente publicación tiene como objetivo compartir con la comunidad médica el tercer caso de síndrome de Camurati-Engelmann conocido en Colombia. Se trata de una paciente femenina de 33 años con cuadro clínico de distonías intensas y signos y síntomas característicos de este síndrome, cuyo diagnóstico fue confirmado por prueba molecular, encontrando la presencia de la variante patogénica p.Arg156Cys en el gen TGF-β1, con presentación de novo. MÉD.UIS.2021;34(1): 119-27. 

Palabras clave: : Síndrome de Camurati-Engelmann, Factor de Crecimiento Transformador beta, Trastornos distónicos, Hiperostosis

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Publicado
2021-06-02
Sección
Presentación de caso