Brain Abscess as the First Clinical Manifestation of Hereditary Hemorrhagic Telangiectasia –  Three Case Reports

Authors: G. Hanoun 1;  V. Vybíhal 1;  M. Sova 1;  J. Boudný 2;  T. Svoboda 1;  M. Smrčka 1
Authors‘ workplace: LF MU a FN Brno Neurochirurgická klinika 1;  LF MU a FN Brno Radiologická klinika 2
Published in: Cesk Slov Neurol N 2015; 78/111(3): 348-353
Category: Case Report


Hereditary hemorrhagic telangiectasia or Rendu‑ Osler‑ Weber disease is an autosomal‑ dominant disorder that results in fibrovascular dysplasia and is characterized by telangiectases and arteriovenous malformation of the skin, mucosa and viscera. Pulmonary arteriovenous malformations as a source of septic emboli may give rise to brain abscess that so often is the first and only clinical manifestation of hereditary hemorrhagic telangiectasia. Three cases of patients suffering from this disease with brain abscess as the first and serious symp­tom are presented. Since this is a relatively rare disease, it is not always considered in the differential dia­gnosis and thus not dia­gnosed. This disease has to be considered in patients with brain abscess and, in case of a suspicion, it must be properly examined. When pulmonary arteriovenous malformation is verified, it has to be treated in order to prevent recurrent brain abscesses. Care of these patients should be comprehensive and multidisciplinary.

Key words:
hereditary hemorrhagic telangiectasia – Rendu-Osler-Weber disease – brain abscess – arteriovenous malformation – epistaxis – endoglin

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manu­script met the ICMJE “uniform requirements” for biomedical papers.


1. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ et al. Dia­gnostic criteria for hereditary hemorrhagic teleangiectasia (Rendu‑ Osler‑ Weber syndrome). Am J Med Genet 2000; 91(1): 66– 67.

2. Sharathkumar AA, Shapiro A. Hereditary hemorrhagic telangiectasia. Haemophilia 2008; 14(6): 1269– 1280. doi: 10.1111/ j.1365‑ 2516.2008.01774.x.

3. Plauchu H, de Chadarevian JP, Bideau A, Robert JM. Age‑related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32(3): 291– 297.

4. Porteous ME, Burn J, Proctor SJ. Hereditary hemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992; 29(8): 527– 530.

5. Kjeldsen AD, Vase P, Green A. Hereditary hemorrhagic telangiectasia: a population‑based study of prevalence and mortality in Danish patients. J Intern Med 1999; 245(1): 31– 39.

6. Römer W, Burk M, Schneider W. Hereditary hemor­rhagic telangiectasia (Osler‘s disease). Dtsch Med Wochenschr 1992; 117(17): 669– 675.

7. Koubaa M, Lahiani D, Mâaloul I, Fourati H, Chaari L, Marrakchi Ch et al. Actinomycotic brain abscess as the first clinical manifestation of hereditary hem­orrhagic telangiectasia –  case report and review of the literature. Ann Hematol 2013; 92(8): 1141– 1143. doi: 10.1007/ s00277‑ 012‑ 1666‑ 0.

8. Govani FS, Shovlin CL. Hereditary hemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 2009; 17(7): 860– 871. doi: 10.1038/ ejhg.2009.35.

9. Braverman IM, Keh A, Jacobson BS. Ultrastructure and three‑ dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990; 95(4): 422– 427.

10. McAllister KA, Lennon F, Bowles‑ Biesecker B, McKinnon WC, Helmbold EA, Markel DS et al. Genetic heterogeneity in hereditary hemorrhagic telangiectasia: pos­sible correlation with clinical phenotype. J Med Genet 1994; 31(12): 927– 932.

11. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA,Biesecker BB, Helmbold EA et al. A disease locus for hereditary hemorrhagic telangiectasia maps to chromosome 9q33– 34. Nat Genet 1994; 6(2): 197– 204.

12. Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary hemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005; 42(7): 577– 582.

13. Bayrak‑ Toydemir P, McDonald J, Akarsu N, Toydemir RM,Calderon F, Tuncali T et al. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A 2006; 140(20): 2155– 2162.

14. Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S et al. A combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363(9412): 852– 859.

15. Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2001; 345(5): 325– 334.

16. Cirulli A, Liso A, D‘Ovidio F, Mestice A, Pasculli G, Gallitelli M et al. Vascular endothelial growth factor serum levels are elevated in patients with hereditary hem­orrhagic telangiectasia. Acta Haematol 2003; 110(1): 29– 32.

17. Sadick H, Naim R, Sadick M, Hörmann K, Riedel F. Plasma level and tissue expression of angiogenic factors in patients with hereditary hemorrhagic telangiectasia. Int J Mol Med 2005; 15(4): 591– 596.

18. Grosse SD, Boulet SL, Grant AM, Hulihan MM, Faughnan ME. The use of US health insurance data for surveillance of rare disorders: hereditary hemor­rhagic telangiectasia. Genet Med 2014; 16(1): 33– 39. doi: 10.1038/ gim.2013.66.

19. Olivieri C, Pagella F, Semino L, Lanzarini L, Valac­­ca C, Pilotto A et al. Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet 2007; 52(10): 820– 829.

20. Kjeldsen AD, Oxhoj H, Andersen PE, Elle B, Jacobsen JP, Vase P. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 1999; 116(2): 432– 439.

21. Assar O, Friedman CM, White RI jr. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope 1991; 101(9): 977– 980.

22. Sabba C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M et al. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation car­riers. J Thromb Haemost 2007; 5(6): 1149– 1157.

23. White RI jr, Pollak JS, Wirth JA. Pulmonary arteriovenous malformations: dia­gnosis and transcatheter embolotherapy. J Vasc Interv Radiol 1996; 7(6): 787– 804.

24. Shovlin CL, Letarte M. Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54(8): 714– 729.

25. Fulbright RK, Chaloupka JC, Putman CM, Sze GK, Mer­riam MM, Lee GK et al. MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. AJNR Am J Neuroradiol 1998; 19(3): 477– 484.

26. Cullen S, Alvarez H, Rodesch G, Lasjaunias P. Spinal arteriovenous shunts presenting before 2 years of age: analysis of 13 cases. Childs Nerv Syst 2006; 22(9): 1103– 1110.

27. Memeo M, Stabile Ianora AA, Scardapane A, Buonamico P, Sabba C, Angelelli G. Hepatic involvement in hereditary hemorrhagic telangiectasia: CT findings. Abdom Imaging 2004; 29(2): 211– 220.

28. Hillert C, Broering DC, Gundlach M, Knoefel WT, Izbicki JR, Rogiers X. Hepatic involvement in hereditary hem­orrhagic telangiectasia: an unusual indication for liver transplantation. Liver Transpl 2001; 7(3): 266– 268.

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