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Sanidad Militar

versión impresa ISSN 1887-8571


ARCOS SANCHEZ, C. et al. Brain abscess in patient with Rendu-Osler-Weber disease: Revision of the syndrome from an illustrative case. Sanid. Mil. [online]. 2012, vol.68, n.3, pp.172-176. ISSN 1887-8571.

Introduction: Rendu-Osler-Weber syndrome also known as hereditary hemorrhagic telangiectasia (THH) is considered as a rare cause of stroke in young people. Also pulmonary arteriovenous malformations (MAVP) are related to brain abscess. Method: We describe the case of a 52 years old female patient that, during a migraine attack, suffers a progressive onset of weakness in left body with numbness. In the evolution there appear signs of altered consciousness and intracranial hypertension, due to a cerebral abscess caused by a septic embolism as a manifestation of PAVM. Results: Through the clinical history we reached the diagnosis of THH confirm by genetic studies, our patient shows, by means of MLPA (Multiplex Ligation-dependent Probe Amplification), a complete delection of one of the alelo of Endogline (ENG) gene. Conclusions: Rendu-Osler-Weber disease, although its low prevalence, should be consider as a cause of brain abscesses in patients with history of pulmonary fistula. The follow of these patients with THH is very important to minimize the risk of fatal events. The diagnostic criteria are clinic but molecular studies can confirm the presence of genetic mutations related to this disease.

Palabras clave : Brain abscess; Rare Stroke Syndromes; Arteriovenous malformations; Rendu-Osler-Weber syndrome; Hereditary Haemorrhagic Telangiectasia.

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