[A Suspected Case of Hemorrhagic Hereditary Telangiectasia Presented with Cerebral Hemorrhage in Infancy]

Brain Nerve. 2020 Aug;72(8):907-911. doi: 10.11477/mf.1416201618.
[Article in Japanese]

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasias in multiple organs. We experienced an infant with cerebral hemorrhaging and suspected HHT based on his family history of HHT. Computed tomography angiography confirmed a cerebral arteriovenous fistula. The onset of cerebral arteriovenous fistulas associated with HHT is relatively early, and the incidence of bleeding is relatively common. When HHT is suspected based on a family history, early imaging screening is recommended to improve the neurological prognosis, even in asymptomatic cases. (Received April 7, 2020; Accepted May 7, 2020; Published August 1, 2020).

MeSH terms

  • Angiography
  • Arteriovenous Fistula*
  • Cerebral Hemorrhage* / etiology
  • Cerebral Hemorrhage* / genetics
  • Humans
  • Infant
  • Telangiectasia, Hereditary Hemorrhagic* / complications
  • Telangiectasia, Hereditary Hemorrhagic* / diagnosis
  • Telangiectasia, Hereditary Hemorrhagic* / genetics
  • Tomography, X-Ray Computed