Exencephaly

Case contributed by Praveen Jha
Diagnosis certain

Presentation

First trimester scan (for nuchal translucency)

Patient Data

Age: 12-13 wks
ultrasound

The cranial vault is not formed, with herniating brain parenchyma, and in proximity with amniotic membrane. Nasal bone could not be visualized, and nuchal translucency measuring approx. 2.6 cm.

Case Discussion

This case depicts findings of exencephaly.

A close differential is acrania, where calvarial absence is there, with normal brain parenchyma. However, in this case, brain parenchyma appears irregular and poorly formed. Also, close proximity with amniotic membrane is there, which may point towards exencephaly.

Patient delivered in other set up, but a secondary confirmation was received.

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