In-utero diagnosis of double encephalocele
An 18-year-old Gravida 1 and para 0 female with gestational age of 22 weeks and 3 days was referred from an outside hospital with a diagnosis of posterior encephalocele of the fetus.
Large encephalocele from the left side of the fetal cranium and a small posterior encephalocele.
Fetal MRI revealed a large left parietal cranium defect and a small posterior cranial defect, with brain parenchyma protruding. The genetic testing revealed that the baby had a deletion of Xq28 involving the gene AFF2 (also known as FMR2, MRX2, FRAXE2).
Encephaloceles, single or double, are rare and usually involve the occipital and sub-occipital regions. Just one case of Parietal and occipital double encephalocele has been reported in literature.