Gutiérrez RJ, Alzate MDC

Idioma: Español
Referencias bibliográficas: 37
Paginas: 253-260
Archivo PDF: 399.72 Kb.

RESUMEN

El síndrome de Berardinelli-Seip, una lipodistrofia congénita, es una enfermedad metabólica rara que se caracteriza por una lipodistrofia generalizada grave, resistencia a la insulina y dislipidemia. La enfermedad se asocia con varias manifestaciones dermatológicas y sistémicas. Las complicaciones incluyen miocardiopatía hipertrófica, hígado graso con disfunción hepática, hipertrofia muscular y varias alteraciones endocrinas. Se presenta un caso de este tipo de lipodistrofia en una mujer de 18 años de edad, que ingresa con un cuadro de hiperglucemia sin evidencia de cetoacidosis o de estado hiperosmolar hiperglucémico, con hepatomegalia, signos de resistencia a la insulina y ausencia de tejido adiposo. Después de los análisis complementarios, se le diagnosticó síndrome de Berardinelli-Seip. El reconocimiento temprano de la lipodistrofia congénita es esencial para prevenir las complicaciones, y permite una asesoría genética y reproductiva de los pacientes y sus familias. Se incluye también una breve revisión de la literatura.

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