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Neuroimaging Findings in Fetal Hemimegalencephaly: Case Study and Review
Waldo Sepulveda1, Francisco Sepulveda1,2,3, Valeria Schonstedt2
1FETALMED-Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Santiago, Chile.
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.
