Hereditary hemorrhagic telangiectasia associated with cerebral arteriovenous fistula and multiple cerebral arteriovenous malformations: case report
Kikuchi, K.; Kowada, M.; Tomura, N.; Johkura, H.
No Shinkei Geka. Neurological Surgery 22(1): 85-91
1994
ISSN/ISBN: 0301-2603 PMID: 8295709 Document Number: 433495
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 AVF 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 collosum 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. Tracker -18 catheter was placed selectively into the feeder of the AVF and Hilal minicoil was carefully injected. However, the minicoil failed to remain in the AVF and moved swiftly into the drainer, and eventually disappeared. It was confirmed that the coil was caught in the hilum of the left lung. Seven days after this endovascular surgery he underwent a bifrontal craniotomy. The AVF was exposed by the interhemispheric approach and a Sugita's miniclip was placed on the feeder. About one year later the patient was further treated with stereotactic radiosurgery for three AVM's. Total doses ranged from 25 to 31.3 Gy with 80 - 90% covering isodose. Follow-up angiography done 8 months after radiosurgery confirmed complete obliteration of all the AVM's.