Abstract

We describe a case of a frontal encephalocele (7,2 mm), diagnosed at the 10+2 weeks’ ultrasound, in a 27 year-old primigravida, without relevant medical or surgical history. No other malformations were found at the ultrasound examination. After reviewing the published literature, this is apparently the earliest case of isolated encephalocele diagnosed prenatally 46,XY). In the intrauterine follow-up until 17 weeks, the lesion reached 16mm in size and accompanied fetal growth. The intrauterine evolution and additional study with fetal brain magnetic resonance imaging contributed to the decision of the medical termination of pregnancy at 18 weeks. The autopsy findings were consistent with the diagnosis.

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