In-utero diagnosis of double encephalocele

Posted By Sunil Jeph
In-utero diagnosis of double encephalocele

Gender, Age

Male, 1


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.

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