乳児期に脳出血で発症した遺伝性出血性毛細血管拡張症疑いの1例

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

遺伝性出血性毛細血管拡張症（HHT）は多臓器における多発性毛細血管拡張を特徴とする疾患である。今回，脳出血で発症した乳児でHHTの家族歴より同疾患を強く疑い，CTAで脳動静脈瘻を確認した。HHTに合併する脳動静脈瘻は年少例，出血による発症例が比較的多い。家族歴からHHTを疑う場合には，無症候例でも早期に画像スクリーニングを行うことで神経予後の向上につながる可能性がある。

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)