title: Central nervous system arteriovenous malformations with hereditary hemorrhagic telangiectasia: report of a family with three cases.
abstract: A family with central nervous system (CNS) arteriovenous malformations (AVMs) and hereditary hemorrhagic telangiectasia (HHT) is reported. A 46-year-old man had an intracerebral hemorrhage. Cerebral angiography showed one AVM and two angiomas. The HHT was diagnosed because of the concomitant existence of cutaneous telangiectasia. The patient's brother had HHT and paraplegia since the age of 21. Magnetic resonance imaging revealed an old spinal cord hemorrhage. The patient's son with HHT had an intracerebral hemorrhage at age 6. Angiograms showed two AVMs and one angioma. Familial CNS AVMs with HHT are extremely rare. The loci for human leukocyte antigen of the affected cases with HHT were evaluated, and the management of CNS AVMs with HHT is discussed.
authors.affiliation: Department of Neurosurgery, School of Medicine, University of Occupational and Environmental Health, Japan.
authors.forename: C
authors.initials: C
authors.lastname: Kadoya
authors.forename: Y
authors.initials: Y
authors.lastname: Momota
authors.forename: Y
authors.initials: Y
authors.lastname: Ikegami
authors.forename: E
authors.initials: E
authors.lastname: Urasaki
authors.forename: S
authors.initials: S
authors.lastname: Wada
authors.forename: A
authors.initials: A
authors.lastname: Yokota
mesh_terms: D000328:Adult; D001165:Arteriovenous Malformations / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics*