Rendu Osler Weber syndrome in an adolescent in Colombia. An autopsy case report

Rendu Osler Weber syndrome in an adolescent in Colombia. An autopsy case report

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 malfo...

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Journal Title: Biosalud
First author: Diana Katherine Sandoval-Martínez
Other Authors: Ernesto García-Ayala;
Santiago Ramírez-Figueroa;
Karen Julieth Torres-Rodríguez;
María Camila Velandia-Avendaño;
José Fernando Villamizar-Castro;
Lorena Marcela Villamizar-Peña;
Jonathan Andrés Quintero-Villamizar
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Language: English
Spanish
Get full text: http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S1657-95502018000100083&lng=es&nrm=iso&tlng=es
Resource type: Journal Article
Source: Biosalud; Vol 17, No 1 (Year 2018).
DOI:
Publisher: Universidad de Caldas
Usage rights: Reconocimiento (by)
Categories: Health Sciences, Social Sciences/Humanities --> Health Care Sciences --AMP-- Services
Abstract: 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.
Translated abstract: La telangiectasia hemorrágica hereditaria es una enfermedad genética rara, perteneciente al grupo de púrpuras angiopáticas de tipo congénito, caracterizada por lesiones vasculares, encontrando frecuentemente telangiectasias en piel y mucosa del tracto gastrointestinal, fístulas arteriovenosas pulmonares y malformaciones vasculares en sistema nervioso central. Su manifestación clínica más frecuente son las hemorragias del tracto respiratorio superior. Este es el caso de una adolescente de 13 años con hallazgos de hepatopatía crónica, esplenomegalia difusa, pancitopenia, fístulas arteriovenosas pulmonares, deterioro neurológico progresivo secundario a hemorragia subaracnoidea con posterior defunción. Se realizó autopsia médicocientífica que reveló múltiples telangiectasias en mucosas, cirrosis de Osler, malformaciones arteriovenosas en polígono encefálico, hemorragia intraventricular con extensión subaracnoidea y bronconeumonía bibasal con pleuritis secundaria.