Osler Weber Rendu syndrome associated with Staphylococcus aureus Spondylodiscitis
DOI:
https://doi.org/10.51481/amc.v58i3.934Keywords:
Hereditary Hemorrhagic Telangiectasia, OslerWeber-Rendu syndrome, Staphylococcus aureus (SA), vertebral osteomyelitisAbstract
Hereditary Hemorrhagic Telangiectasia or Osler-WeberRendu syndrome is a dominant autonomic disorder caused by mutations of the endoglin gene or the kinase gene similar to the activin receptor. This disease is characterized by the presence of telangiectasia on skin and mucous, recurrent and spontaneous epistaxis, as well as arteriovenous malformations in lungs, brain and gastrointestinal system. The association between this disease and infections in several places of the body with Staphylococcus aureus has been reported. The mechanisms of this predisposition include the presence of arteriovenous fistulas and polymorphonuclear dysfunction. A case is reported about a patient carrying the disease associated with vertebral osteomyelitis, who required a prolonged antibiotic treatment and instrumentation of the vertebral column at thoracic level. It is necessary to consider this type of infections in patients with this disease, which may help when choosing the antibiotic treatment and a more expeditious patient management.
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References
M E Begbie ME, Wallace GMF, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. 2003; 79:18-24.
Hanes FM. Multiple hereditary telangiectases causes hemorrhage (hereditary hemorrhagic telangiectasia). Bull Johns Hopkins Hosp. 1909; 20: 63-73.
Rendu H. Épistaxis répétées chez un sujet porteur de petits angiomes cutanés et muqueux. Gaz des Hôpitaux. 1896; 1: 1322-23.
Osler W. On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes. Bull Johns Hopkins Hosp. 1901; 7: 333-337.
Weber FP. Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages. Rev Lancet. 1907; 2: 160-162.
Fuchizaki U, Miyamori H, Kitagawa S, Kaneko S, K. Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). Rev Lancet. 2003; 362: 1490- 1494.
Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000; 91: 66-67.
Giovani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Rev European Journal of Human Genetics. 2009; 17: 860-871.
Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrel NW. Clinical and molecular genetic features of Pulmonary Hypertension in patients with Hereditary Hemorrhagic Telangiectasia. Rev N Engl J Med. 2001; 345: 325-334.
Cortez Juares A, Dell'Aringa A, Nardi J, Kobari K, Moron Rodrigues V, Martins Perches Filho R. Rendu-Osler-Weber Syndrome: case report and literature review. Bras Otorrinolaringol. 2008; 74: 452-457.
Dupuis GS, Decullier E, Lesca G, et al. Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association. Clin. Infect. Dis. 2007; 44: 841-845.
McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Rev Genet. Med. 2011; 13: 607-616.
Musso M, Capone A, Chinello P, Di Bella S, Galati V, Noto P, et al. Extra-cerebral severe infections associated with haemorrhagic hereditary telangiectasia (Rendu-Osler- Weber Disease): five cases and a review of the literature. Rev Le Infezioni in Medicina. 2014 ; 1:50-56.
Morita H, Kimura N, Yuri K, Adachi K, Yamaguchi A, Adachi H. Bentall Operation for Prosthetic Valve Endocarditis with Hereditary Hemorrhagic Telangiectasia. Annals of Thoracic and Cardiovascular Surgery. 2013; 1:1 -3.
Duval X, Djendli S, Le Moing V, Longuet P, Barry B, Leport B, Vilde J. Recurrent staphylococcus aureus extracerebral infections complicating Hereditary hemorrhagic telangiectasia (Osler-Rendu- Weber disease). Am J Med 2001; 110: 671-672.
Cirulli A, Loria MP, Dambra P, Di Serio F, Ventura MT, Amati L, et al. Patients with hereditary hemorrhagic telangectasia (HHT) exhibit a deficit of polymorphonuclear cell and monocyte oxidative burst and phagocytosis: a possible correlation with altered adaptive immune responsiveness in HHT. Curr Pharm Des. 2006; 12:1209.
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