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Biosalud
versión impresa ISSN 1657-9550
Resumen
SANDOVAL-MARTINEZ, Diana Katherine et al. RENDU OSLER WEBER SYNDROME IN AN ADOLESCENT IN COLOMBIA. AN AUTOPSY CASE REPORT. Biosalud [online]. 2018, vol.17, n.1, pp.83-89. ISSN 1657-9550. https://doi.org/10.17151/biosa.2018.17.1.8.
Hereditary hemorrhagic telangiectasia is a rare genetic disease, belonging to the group of congenital angiopathic purpuras. Vascular injuries characterize it, being the most frequent telangiectasia on the skin and the gastrointestinal tract mucosa, pulmonary arteriovenous fistulas and vascular malformations in the central nervous system. The most frequent clinical manifestations are hemorrhages from the upper respiratory tract. It is presented the case of a 13-year-old girl with findings of chronic liver disease, diffuse splenomegaly, pancytopenia, pulmonary arteriovenous fistulas, progressive neurological deterioration secondary to subarachnoid hemorrhage with subsequent death. A medical-scientific autopsy was carried out that revealed multiple telangiectasias in mucous membranes, Osler’s cirrhosis, arteriovenous malformations in the brain polygon, intraventricular hemorrhage with subarachnoid extension, and bibasal bronchopneumonia with secondary pleuritis.
Palabras clave : telangiectasia hereditary hemorrhagic; adolescent; pathology.