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[艾卡迪综合征。2例报告]

[Aicardi's syndrome. Report of 2 cases].

作者信息

Abraham R, Kanda P A, Da Silva L J, De Mello P, Segre N G

出版信息

Arq Neuropsiquiatr. 1986 Dec;44(4):364-72. doi: 10.1590/s0004-282x1986000400007.

Abstract

Aicardi's syndrome is a clinical entity characterized by agenesis of the corpus callosum, severe mental subnormality, seizures (most frequently spasms in flexion), characteristic electroencephalographic changes (burst-suppression pattern), typical chorioretinal lacunae, present only in females. Other associated findings are rib and vertebral dysplasias; frequently found are cortical heterotopias. This syndrome is of hereditary origin, now considered a probable X-linked dominant trait with male lethality. The authors describe two cases of this syndrome with the full clinical picture.

摘要

艾卡里迪综合征是一种临床病症,其特征为胼胝体发育不全、严重智力发育迟缓、癫痫发作(最常见为屈曲性痉挛)、特征性脑电图改变(爆发抑制模式)、典型的脉络膜视网膜缺损(仅见于女性)。其他相关表现包括肋骨和椎体发育异常;常见的还有皮质异位。该综合征为遗传起源,现被认为可能是一种具有男性致死性的X连锁显性性状。作者描述了两例具有完整临床表现的该综合征病例。

相似文献

1
[Aicardi's syndrome. Report of 2 cases].[艾卡迪综合征。2例报告]
Arq Neuropsiquiatr. 1986 Dec;44(4):364-72. doi: 10.1590/s0004-282x1986000400007.
2
Neurosonographic features of Aicardi's syndrome.艾卡里迪综合征的神经超声特征。
J Child Neurol. 1989 Oct;4(4):307-10. doi: 10.1177/088307388900400411.
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Aicardi's syndrome; radiologic manifestations.艾卡迪综合征;影像学表现。
Radiology. 1978 May;127(2):453-5. doi: 10.1148/127.2.453.
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Aicardi's syndrome: a report of four cases and review of the literature.艾卡迪综合征:4例报告及文献复习
J Pediatr Ophthalmol Strabismus. 1979 Jan-Feb;16(1):10-5. doi: 10.3928/0191-3913-19790101-04.

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