| Autor: |
Fajardo-Jiménez MJ; Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44350, Mexico., Tejada-Moreno JA; Grupo Genética Molecular GENMOL, Universidad de Antioquia UdeA, Medellín 050010, Colombia., Mejía-García A; Grupo Genética Molecular GENMOL, Universidad de Antioquia UdeA, Medellín 050010, Colombia., Villegas-Lanau A; Grupo Neurociencias de Antioquia GNA, Universidad de Antioquia UdeA, Medellín 050010, Colombia., Zapata-Builes W; Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín 050012, Colombia., Restrepo JE; Grupo OBSERVATOS, Facultad de Educación y Ciencias Sociales, Tecnológico de Antioquia-Institución Universitaria, Medellín 050034, Colombia., Cuartas GP; Grupo Neurociencia y Cognición, Facultad de Psicología, Universidad Cooperativa de Colombia, Medellín 050012, Colombia., Hernandez JC; Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín 050012, Colombia. |
| Abstrakt: |
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbidities taking 40 years of medical history to make the right diagnosis. This article also presents a review of the current literature on EDS, not only to remind the syndrome but also to help the clinician correctly identify symptoms of this diverse syndrome. Conclusion: A multidisciplinary approach to the diagnosis of the patient, including clinical and molecular analysis, and neuropsychological and psychological assessment, is important to improve the treatment choice and the outcome prediction of the patients. |
