Mejia Marcia, Vargas Arango Santiago, Vargas Vélez Sergio, Pimiento Figueroa Jonathan
Radiology, Universidad de Antioquia, Medellin, COL.
General Medicine, Universidad CES, Medellin, COL.
Cureus. 2024 Feb 19;16(2):e54456. doi: 10.7759/cureus.54456. eCollection 2024 Feb.
Hemimegalencephaly is a rare congenital anomaly characterized by an increase in the size and dysplastic involvement of one cerebral hemisphere, which can be partial or complete. It may also be associated with anomalies in the cerebellum and brainstem and, in some cases, be a part of different syndromes. The result of these abnormalities leads to intractable epilepsy and developmental delay. Diagnosis is typically made through imaging studies in the postnatal period, but it can also be done before birth. We present the case of a 23-week pregnant patient in whom a prenatal diagnosis of hemimegalencephaly was made, highlighting the need for fetal magnetic resonance imaging (MRI) to confirm the diagnosis.
半侧巨脑畸形是一种罕见的先天性异常,其特征为一侧大脑半球体积增大且发育异常,可为部分性或完全性。它也可能与小脑和脑干异常相关,在某些情况下,是不同综合征的一部分。这些异常的结果导致难治性癫痫和发育迟缓。诊断通常在出生后通过影像学检查进行,但也可以在出生前完成。我们报告一例23周妊娠患者,其产前诊断为半侧巨脑畸形,强调了胎儿磁共振成像(MRI)对确诊的必要性。