| Revue: | Annals of hepatology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000416627 |
| ISSN: | 1665-2681 |
| Autores: | alafateli, Maria1 Triantos, Christos1 Tsamandas, Athanasios2 Kounadis, Gerasimos1 Labropoulou Karatza, Chryssoula3 |
| Instituciones: | 1University Hospital of Patras, Department of Gastroenterology, Patras. Grecia 2University Hospital of Patras, Department of Pathology, Patras. Grecia 3University Hospital of Patras, Department of Internal Medicine, Patras. Grecia |
| Año: | 2012 |
| Periodo: | Ene-Feb |
| Volumen: | 11 |
| Número: | 1 |
| Paginación: | 130-133 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico |
| Resumen en inglés | Myotonic dystrophy type 1, also known as Steinert’s disease, is a multisystemic disorder with significant genetic and clinical heterogeneity. Apart from skeletal muscles’ myotonia and wasting, a variety of system organs can be affected. We report on a 49 years old female patient with unremarkable medical and family history, who presented with elevated liver enzymes without signs or symptoms of chronic liver disease neither neurological features. Initial assessment, including liver biopsy, did not reveal the cause of these abnormalities. Eight months later, she complained for disequilibrium and eventually electromyography confirmed the diagnosis of Steinert’s disease. Steinert’s disease should be considered in the differential diagnosis of patients with elevated liver enzymes, as long as abnormal liver tests may be the initial presentation. The pathophysiological mechanism of this abnormality remains unclear |
| Disciplinas: | Medicina |
| Palabras clave: | Gastroenterología, Neurología, Distrofia miotónica, Enfermedad de Steinert, Función hepática, Pruebas diagnósticas |
| Keyword: | Gastroenterology, Neurology, Myotonic dystrophy, Steinert disease, Liver function, Diagnostic tests |
| Texte intégral: | Texto completo (Ver PDF) |
