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Sandoval Martínez, Diana Katherine García Ayala, Ernesto Ramírez Figueroa, Santiago Torres Rodríguez, Karen Julieth Velandia Avendaño, María Camila Villamizar Castro, José Fernando Villamizar Peña, Lorena Marcela Quintero Villamizar, Jonathan Andrés 2018-01-01T00:00:00Z 2018-01-01T00:00:00Z 2018-01-01 1657-9550 10.17151/biosa.2018.17.1.8 2462-960X https://doi.org/10.17151/biosa.2018.17.1.8 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. 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. application/pdf spa Universidad de Caldas Diana Katherine Sandoval Martínez - 0 https://creativecommons.org/licenses/by-nc-sa/4.0/ info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/2254 telangiectasia hemorrágica hereditaria adolescente patología telangiectasia hereditary hemorrhagic adolescent pathology Síndrome de Rendu Osler Weber en una adolescente en Colombia : reporte de un caso de autopsia. Rendu Osler Weber syndrome in an adolescent in Colombia : an autopsy case report. Artículo de revista http://purl.org/coar/resource_type/c_6501 http://purl.org/coar/resource_type/c_dcae04bc Text info:eu-repo/semantics/article Journal article http://purl.org/redcol/resource_type/ARTREV info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 89 1 83 17 Biosalud Ramírez O, García-Guereta L, Rubio M, del Cerro M, Parrón M. Síndrome de Rendu-Osler-Weber: causa infrecuente de hipoxemia en la infancia. An Esp Pediatr. 2010;73(5):272-276. Chin C, Rotenberg B, Witterick I. Epistaxis in hereditary hemorrhagic telangiectasia: an evidencebased review of surgical management. J Otolaryngol Head Neck Surg. 2016;45(1):1-7. Barbosa A, Hans Filho G, Vicari C, Medeiros M, Couto D, Takita L. Rendu-Osler-Weber syndrome:dermatological approach. An Bras Dermatol. 2015;90(3):226-228. Ospina FE, Echeverri A, Posso-Osorio I, Jaimes L, Gutierrez J, Tobón GJ. Bevacizumab as a treatmentfor hereditary hemorrhagic telangiectasia in children: a case report. Colomb Med (Cali). 2017;48(2):89-93. Mei-Zahav M, Letarte M, Faughnan M, Abdalla S, Cymerman T, MacLusky IB. Symptomatic Children With Hereditary Hemorrhagic Telangiectasia A Pediatric Center Experience. Arch. Pediatr Adolesc Med. 2006;160(6):596-601. Begbie M, Wallace G, Shovlin C. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. 2003;79:18-24. Giordano P, Lenato GM, Suppressa P, Lastella P, Dicuonzo F, Chiumarulo L, et al. Hereditary Hemorrhagic Telangiectasia: Arteriovenous Malformations in Children. J Pediatr. 2013;163(1):179-86. Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, et al. Intracranial Hemorrhage in Infants and Children With Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome). Pediatrics. 2002;109(1):e12-e12. Kikuchi K, Kowada M, Sasajima H. Vascular malformations of the brain in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Surg Neurol. 1994;41(5):374-380. Bharatha A, Faughnan M, Pourmohamad T, Krings T, Bayrak-Toydemir P, Pawlikowska L, et al. Brain arteriovenous malformation multiplicity predicts diagnosis of Hereditary Hemorrhagic Telangiectasia: Quantitative assessment. Stroke. 2012;43(1):72-8. Chuan-Qiang Q, Shou-Gang G, Yan H, Yu-Xi C. CT Manifestations of Osler-Weber-Rendu Syndrome in Liver: Report of Three Cases. J Clin Imaging Sci. 2012;2:26. doi: 10.4103/2156-7514.96541. Arco M, Machain M. Síndrome De Rendu-Osler-Weber: Compromiso Hepático. Rev. HPC. 2013;16(2):10-6 . Martini G. The liver in hereditary hemorrhagic telangiectasia: an inborn error of vascular structure with multiple manifestations: a reappraisal. Gut. 1978;19(6):531-537. Cottin V, Plauchu H, Bayle J, Barthelet M, Revel D, Cordier J. Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. Am J Respir Crit Care Med. 2004;169(9):994- 1000. McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [Updated 2017 Feb 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1351 Núm. 1 , Año 2018 : Enero - Junio https://revistasojs.ucaldas.edu.co/index.php/biosalud/article/download/2254/2157 Publicationmetadata.only