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  • Title: [Hereditary hemorrhagic telangiectasia associated with cerebral arteriovenous fistula and multiple cerebral arteriovenous malformations: case report].
    Author: Kikuchi K, Kowada M, Tomura N, Johkura H.
    Journal: No Shinkei Geka; 1994 Jan; 22(1):85-91. PubMed ID: 8295709.
    Abstract:
    Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is an autosomal dominant disorder characterized by a triad of mucocutaneous and visceral telangiectasia, recurrent epistaxis and familial history. We reported a rare case of HHT associated with pulmonary and cerebral arteriovenous fistulae (AVF) and multiple cerebral arteriovenous malformations (AVM). The roles of multimodality therapies including artificial embolization, feeder clipping and stereotactic radiosurgery for these multiple cerebrovascular dysplasia in HHT were discussed. In particular the usefulness of radiosurgery to obliterate AVM was emphasized. It is especially useful for multiple AVM's associated with HHT. A 7-year-old boy had presented himself at another hospital 2 years previously with cyanosis of the lips and fingers on exertion. He was diagnosed as having pulmonary AVG and underwent surgery. His mother had suffered from epistaxis in her adolescence, and was then highly suspected as having HHT. She underwent surgical removal of a left fronto-parietal AVM at the age of 16 years. The family history then prompted the patient to have a brain CT done, which eventually demonstrated an abnormal enhancing mass at the left frontal region. He was transferred to our service for further evaluation. Left carotid angiograms demonstrated an AVF supplied by a dilated anterior internal frontal artery of the anterior cerebral artery (ACA), draining directly into the vein of the corpus callosum with a large aneurysmal dilatation, and then draining further into the straight sinus via the vein of Galen. In addition, right carotid angiograms revealed three small AVM's fed by the median artery of the corpus callosum, and the middle internal frontal and paracentral arteries of the right ACA, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)
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