DOI: https://doi.org/10.36347/sjmcr.2025.v13i09.007

Pages: 1981-1985

This case illustrates a rare prenatal presentation of porencephaly associated with congenital cytomegalovirus (CMV) infection, highlighting the importance of considering viral etiologies in the differential diagnosis of fetal brain malformations. A 28-year-old primigravida was referred at 24 weeks and 3 days of gestation for suspected polymalformative syndrome. Ultrasound revealed multiple anomalies including microcephaly, cerebellar and vermian hypoplasia, Blake’s pouch cyst, mild ventriculomegaly, near agenesis of the corpus callosum, agenesis of the septum pellucidum, hyperechoic intestine, and adrenal calcifications. CMV infection was suspected, and confirmed by positive serology and CMV DNA detected in the amniotic fluid; fetal karyotype was normal. A medical termination of pregnancy was performed, and fetopathological examination confirmed porencephaly and signs of CMV infection. This case emphasizes the critical role of detailed prenatal imaging and targeted virological testing in diagnosing congenital infections and guiding perinatal decision-making. Early detection of such severe anomalies allows timely intervention and informed counseling.