Neuroimaging Findings in Fetal Hemimegalencephaly: Case Study and Review.

IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Fetal Diagnosis and Therapy Pub Date : 2024-01-01 Epub Date: 2023-11-25 DOI:10.1159/000535406
Waldo Sepulveda, Francisco Sepulveda, Valeria Schonstedt, Jocelyn Stern, Ricardo Diaz-Serani
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引用次数: 0

Abstract

Background: Limited information exists in the prenatal literature regarding the neuroimaging features of fetal hemimegalencephaly.

Summary: This report describes ultrasound and magnetic resonance imaging (MRI) findings in a second-trimester fetus with an isolated, severe form of hemimegalencephaly. The most prominent imaging findings included unilateral enlarged cerebral hemisphere and ipsilateral ventriculomegaly causing cerebral asymmetry, midline shift, and macrocephaly. Abnormal cortical development imaging signs were also evident. A literature review encompassing 23 reports describing 36 cases, including ours, is presented.

Key messages: Characteristic ultrasound findings for the diagnosis of hemimegalencephaly are not always apparent prenatally. Asymmetric ventriculomegaly emerges as the most common but nonspecific presenting feature during routine second- or third-trimester ultrasound scans. Subsequent high-resolution prenatal neurosonography and fetal MRI facilitate definitive prenatal diagnosis, showcasting associated features primarily related to cortical migration, differentiation, and maturation. Postnatally, the prognosis is poor due to intractable seizures, hemiplegia, and progressive neurodevelopmental delay.

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胎儿半巨脑畸形的神经影像学表现:病例研究和回顾。
背景:产前文献中关于胎儿半巨脑畸形的神经影像学特征的信息有限。摘要:本报告描述了超声和磁共振成像(MRI)发现的中期妊娠胎儿孤立的,严重形式的半巨脑畸形。最突出的影像学表现包括单侧大脑半球增大和同侧脑室增大,引起大脑不对称、中线移位和大头畸形。皮层发育异常的影像学征象也很明显。文献综述包括23个报告,描述36个病例,包括我们的,提出。诊断半巨脑畸形的特征性超声结果在产前并不总是明显的。不对称心室肿大是妊娠中期或晚期常规超声扫描中最常见但非特异性的表现特征。随后的高分辨率产前神经超声检查和胎儿MRI有助于明确的产前诊断,显示主要与皮质迁移、分化和成熟相关的相关特征。出生后,由于顽固性癫痫发作,偏瘫和进行性神经发育迟缓,预后较差。
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来源期刊
Fetal Diagnosis and Therapy
Fetal Diagnosis and Therapy 医学-妇产科学
CiteScore
4.70
自引率
9.10%
发文量
48
审稿时长
6-12 weeks
期刊介绍: The first journal to focus on the fetus as a patient, ''Fetal Diagnosis and Therapy'' provides a wide range of biomedical specialists with a single source of reports encompassing the common discipline of fetal medicine.
期刊最新文献
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