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Osler-Weber-Rendu syndrome
  1. M C Bates,
  2. A Almehmi

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A 54 year old white woman was admitted with a 10 year history of progressive dyspnoea and exertional hypoxia (oxygen saturation fell from 96% to 77% after two minutes of exercise). The typical clinical stigmata of periungual erythema/telangiectasias and telangiectasias of both the conjunctivae reflection (panel A) and inner mucosa of the lip were noted. A presumptive diagnosis of hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) was made and pulmonary artery catheterisation confirmed a right to left shunt. Pulmonary angiography revealed multiple arterial venous malformations (AVMs) (panel B). On further questioning, the patient described a history of worsening headaches that had been diagnosed as “atypical migraines”. Cerebral angiography confirmed a 1×1×1 cm compact nidus left occipital lobe AVM (panel C). The patient clinically improved after pulmonary coil embolisation and gamma knife ablation of the cerebral AVM.

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