Fetal MRI in Prenatal Diagnosis of Encephalocele

Encephalocele, a rare congenital brain malformation, is herniation of brain tissue with or without meninges through a cranial fossa defect. It is classified by location and is usually associated with other congenital anomalies.

A 29-year-old G2, P1, 36-week pregnant woman was referred for fetal ultrasound delivery planning. Sonographic abnormalities led to fetal magnetic resonance imaging, which revealed a large sac of cerebrospinal fluid herniating through the anterior cranial fossa defect with strands of neurogenic tissue in direct contact with the tongue in the absence of the palate. Agenesis of the corpus callosum and the classic "Viking helmet" appearance of the frontal horns of the lateral ventricles were clearly visible.

Prenatal diagnosis of encephalocele is rarely reported. Unfortunately, the infant in this case report died at 3 months of age despite intensive medical therapy.