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帕里斯特-霍尔综合征的下丘脑错构瘤的胎儿磁共振成像。

Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome.

机构信息

Institute of Diagnostic and Interventional Radiology, General Hospital of Klagenfurt, A-9020 Klagenfurt, Austria.

出版信息

Pediatr Neurol. 2010 Jan;42(1):59-60. doi: 10.1016/j.pediatrneurol.2009.08.003.

DOI:10.1016/j.pediatrneurol.2009.08.003
PMID:20004865
Abstract

Fetal magnetic resonance imaging is increasingly being used as an adjunct to ultrasound. It allows for better visualization of in utero brain development and intracranial abnormalities (especially cerebral malformations). Hypothalamic hamartoma is a nonneoplastic malformation resembling normal hypothalamic tissue both histologically and on magnetic resonance imaging. Although it is rare, this entity is important to recognize for appropriate management and genetic counseling. We describe a unique patient in whom magnetic resonance imaging of the fetal brain allowed a prenatal diagnosis of Pallister-Hall syndrome.

摘要

胎儿磁共振成像越来越多地被用作超声的辅助手段。它可以更好地观察子宫内大脑发育和颅内异常(特别是脑畸形)。下丘脑错构瘤是一种非肿瘤性畸形,在组织学和磁共振成像上均类似于正常的下丘脑组织。尽管这种疾病很少见,但对于适当的管理和遗传咨询来说,认识到这种疾病很重要。我们描述了一位独特的患者,其胎儿脑部磁共振成像能够做出产前诊断为 Pallister-Hall 综合征。

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引用本文的文献

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Prenatal diagnosis of Pallister-Hall syndrome: ultrasound, magnetic resonance imaging, and three-dimensional reconstructions of phenotypical findings.帕利斯特-霍尔综合征的产前诊断:超声、磁共振成像及表型特征的三维重建
J Ultrasound. 2023 Apr 17. doi: 10.1007/s40477-023-00782-8.
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Fetal magnetic resonance imaging in the diagnosis of spinal cord neural tube defects: A prospective study.胎儿磁共振成像在脊髓神经管缺陷诊断中的应用:一项前瞻性研究。
Front Neurol. 2022 Aug 8;13:944666. doi: 10.3389/fneur.2022.944666. eCollection 2022.
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Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.
下丘脑错构瘤在 Pallister-Hall 综合征同卵双胞胎中的神经影像学表现:病例报告及文献复习。
BMC Neurol. 2022 Mar 24;22(1):118. doi: 10.1186/s12883-022-02618-0.
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Pre- and postnatal MR imaging of an asymptomatic giant hypothalamic hamartoma.无症状性巨大下丘脑错构瘤的产前和产后磁共振成像
Radiol Case Rep. 2020 Jun 16;15(8):1250-1255. doi: 10.1016/j.radcr.2020.05.041. eCollection 2020 Aug.
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