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[一名婴儿因脑动脉动脉瘤破裂而发现的遗传性出血性毛细血管扩张症]

[Rendu Osler disease revealed by ruptured cerebral arterial aneurysm in an infant].

作者信息

Roy C, Noseda G, Arzimanoglou A, Harpey J P, Binet M H, Vaur C, Caille B

机构信息

Service de Pédiatrie, Höpital de la Salpëtrière, Paris.

出版信息

Arch Fr Pediatr. 1990 Dec;47(10):741-2.

PMID:2082850
Abstract

A 6 week-old boy whose mother and sister present with hereditary hemorrhagic telangiectasia (HHT) presented suddenly with listlessness, hypotonia, and acute anemia. Cerebrospinal fluid was grossly hemorrhagic. Brain CT scan was compatible with subarachnoid and intracerebral hemorrhage. Operative investigation diagnosed a ruptured aneurysm of one branch of the right middle cerebral artery. A large clot was removed from the right frontal lobe. The ruptured artery was clipped. Further cerebral and abdominal angiographies did not show other aneurysms. The infant died 18 days later, with bilateral subdural hematoma. The family history and review of the literature suggest that the rupture of a cerebral aneurysm in this infant may have been an early manifestation of HHT. Brain CT scan study seems mandatory in every infant born to a mother with HHT.

摘要

一名6周大的男婴,其母亲和姐姐患有遗传性出血性毛细血管扩张症(HHT),突然出现精神萎靡、肌张力减退和急性贫血。脑脊液明显呈血性。脑部CT扫描结果与蛛网膜下腔和脑内出血相符。手术探查诊断为右大脑中动脉一个分支的动脉瘤破裂。从右额叶清除了一个大血块。对破裂的动脉进行了夹闭处理。进一步的脑部和腹部血管造影未显示其他动脉瘤。该婴儿18天后死亡,伴有双侧硬膜下血肿。家族史和文献回顾表明,该婴儿脑动脉瘤破裂可能是HHT的早期表现。对于母亲患有HHT的每一名婴儿,脑部CT扫描检查似乎是必不可少的。

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