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Acrania-exencephaly sequence

Case contributed by Mohd Imran
Diagnosis almost certain

Presentation

Abdominal pain. Inadvertently taken radiograph.

Patient Data

Age: 24 weeks gestation
x-ray

Fetal skeleton projected onto the patient's abdomen and pelvis, with no discernable skull vault - suspected acrania.

ultrasound

Irregular outlined brain patter protruding freely into amniotic fluid is seen, with absence of cranial vault.

Case Discussion

Neural tube defects (NTDs) affect 2.6 per 1000 births, with spina bifida and anencephaly accounting for 95% of all NTDs.

Anencephaly is the absence of cranial bones with exposed rudimentary brain tissue. Polyhydramnios is commonly associated with anencephaly due to the absence of pituitary control over urine formation.

Anencephaly is prevalent in low socioeconomic strata due to the lack of folic acid supplementation during pregnancy.

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