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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.

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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