exencephaly..case

a reported case of exencephaly

1. بسم الله الرحمن الرحيم

2. 30year old female came for routine obstetrical examination, her fetus of 17 wk gestational age

3. Ultrasound examination reveal active single viable fetus with absence of skull vault ,the brain is preserved …..

4. jaw orbit cervix orbit

5. Brain tissue Brain tissue Choroid p Lateral vent

6. exencephally is a lethal congenital fetal brain developmental anomaly ( neural tube defect )  It is characterized by calvarial absence and loss of fetal brain tissue to variable degrees and is considered a precursor to anencephaly   in the acrania-exencephally-anencephaly sequence.

7. Radiographic features Imaging features have some overlap with that of anencephaly except that there is some brain tissue presence. cranial vault is absent or poorly formed. Nasal bone may be absent in most cases. brain tissue is herniating or dangling in amniotic fluid. brain tissue may be attached to the amniotic membrane

8. Treatment and prognosis Exencephaly is a precursor to anencephaly, and essentially a lethal condition. Advise and counseling for abortion is to be given to the parents.

9. DDx: Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present The condition is thought to result from abnormal migration of mesenchymal tissue, which normally covers the cerebral hemispheres antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)

10. DDx of acrania Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum) congenital hypophosphatasia achondrogenesis severe osteogenesis imperfecta  - additional findings such as bowing, shortening, or fractures of long bones often aid in distinction from acrania. calvarial defect(s) due to an amniotic band