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[1例疑似出血性遗传性毛细血管扩张症的婴儿期脑出血病例]

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

作者信息

Higuchi Naoya, Uda Keiko, Mizokami Taiichiro, Mitsumizo Shinji, Ishiguro Tomoya, Komiyama Masaki, Nishimura Shinji, Matsuo Muneaki

机构信息

Department of Pediatrics, Saga-ken Medical Centre Koseikan.

出版信息

Brain Nerve. 2020 Aug;72(8):907-911. doi: 10.11477/mf.1416201618.

DOI:10.11477/mf.1416201618
PMID:32741772
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).

摘要

遗传性出血性毛细血管扩张症(HHT)的特征是多个器官出现毛细血管扩张。我们遇到一名患有脑出血的婴儿,根据其HHT家族史怀疑患有HHT。计算机断层血管造影证实为脑动静脉瘘。与HHT相关的脑动静脉瘘发病相对较早,出血发生率相对较高。当根据家族史怀疑患有HHT时,即使在无症状的情况下,也建议进行早期影像学筛查以改善神经学预后。(2020年4月7日收稿;2020年5月7日接受;2020年8月1日发表)

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