Prenatal Diagnosis of Atretic Parietal Cephalocele
Introduction: Cephalocele is the herniation of intracranial structures such as arachnoid, glial and central nervous system rests through a fetal skull defect. Although the estimated incidence of cephaloceles is 0.8-4 per 10.000 live births, this number may be underestimated due to stillbirths and elective pregnancy terminations.
Case Presentation: We present the case of a 34-year-old primigravida with an uneventful medical and family history, who attended our unit for the second trimester fetal ultrasound examination. The ultrasound scan showed a singleton live fetus with a gestational age of 23 weeks and normal growth parameters for the gestational age of the pregnancy. The sonographic evaluation of the fetal head revealed a posterior protruding sac-like structure, which appeared to originate from the right lambdoid suture. The mass measured 22.6 x 27 x 16 mm and did not appear to include brain tissue. MRI revealed the apparent elevation of the straight venous sinus, a pathognomonic feature of congenital atretic parietal cephaloceles.
Conclusion: Careful evaluation of the fetal head during the second trimester ultrasound is essential for the timely and accurate diagnosis of atretic cephaloceles. MRI is helpful to differentiate sculp lesions such as sinus pericranii, lipomas, teratomas, sarcomas and cephaloceles. Early prenatal detection of cephaloceles allows more time for delivery planning and parental counselling.
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