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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.
References
2. 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.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. Arco M, Machain M. Síndrome De Rendu-Osler-Weber: Compromiso Hepático. Rev. HPC. 2013;16(2):10-6 .
13. 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.
14. 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.
15. 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
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