Acrania-anencephaly sequence

Case contributed by Dr Praveen Jha

Presentation

Antenatal scan at 14 weeks.

Patient Data

Age: 14 wks gestation pregnancy
Gender: Female
Ultrasound

Antenatal ultrasound

There is complete absence of cranial vault with relatively disorganised brain tissue.

Case Discussion

The absence of cranial vault (acrania) with disorganised herniated brain tissue (exencephaly) are part of the acrania-exencephaly-anencephaly sequence.

The key finding is the lack of an ossified cranial vault.

Note that the posterior fossa "cyst" labelled in the images are likely reflective of abnormal brain parenchyma. 

This is usually an isolated finding but may occasionally be associated with chromosomal abnormalities.

Prognosis is universally dismal; babies born with this condition do not tend to survive longer than a few minutes after delivery.

It is important to note that once a woman has had a pregnancy with this condition, she is at markedly increased risk of neural tube defects (i.e., anencephaly, encephalocoele and meningomyelocoele) for subsequent pregnancies, and double dosage of periconceptional folic acid supplementation is recommended.

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Case information

rID: 22018
Case created: 4th Mar 2013
Last edited: 21st May 2016
Inclusion in quiz mode: Included

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