EC Gynaecology

Encephalocele is a rare congenital neural-tube defect characterized by herniation of meninges with or without brain tissue through a cranial defect. Lesions are classified by location-frontal, parietal, or occipital-the latter being the most frequent presentation. Prognosis depends on the anatomic site, the amount and integrity of herniated neural tissue, and the presence of associated abnormalities; when substantial brain is involved or major co-anomalies are present, outcomes are poor and pregnancy termination may be considered after counseling. We report a 23-week fetus with an occipital encephalocele identified on obstetric ultrasound; fetal MRI confirmed the diagnosis and, on targeted assessment for associated anomalies, demonstrated lissencephaly.

 Keywords: Occipital Encephalocele; Lissencephaly; US; MRI

1. Society for Maternal-Fetal Medicine (SMFM)., et al. “Posterior encephalocele (SMFM Anomalies Consult Series #3)”. American Journal of Obstetrics and Gynecology 6 (2020): B9-B12.
2. Liao SL., et al. “Prenatal diagnosis of fetal encephalocele using three-dimensional ultrasound”. Journal of Medical Ultrasound 3 (2012): 150-154.
3. Kasprian GJ., et al. “Prenatal imaging of occipital encephaloceles”. Fetal Diagnosis and Therapy 3 (2015): 241-248.
4. Cavalheiro S., et al. “Fetal surgery for occipital encephalocele”. Journal of Neurosurgery: Pediatrics 6 (2020): 605-612.
5. Watik F., et al. “Occipital encephalocele: Presentation of case”. International Journal of Surgery Case Reports 110 (2023): 108642.
6. Marinho M., et al. “Prenatal diagnosis of frontal encephalocele”. Journal of Clinical Ultrasound 9 (2020): 557-559.
7. Aseli S., et al. “Fetal MRI in prenatal diagnosis of encephalocele”. Journal of Obstetrics and Gynaecology Canada 3 (2019): 304-307.