Exencephaly – A Fatal Form of Neural Tube Defects in Fetus

Abstract

Exencephaly is a type of cephalic disorder, wherein the brain is located outside of the skull. This condition is usually found in embryos as an early stage of exencephaly. As an exencephalic pregnancy progresses, the neural tissue gradually degenerates. The prognosis for infants born with exencephaly is extremely poor. It is rare to find an infant born with exencephaly, as most cases that are not early stages of anencephaly are usually stillborn. Those infants who are born with the condition usually die within hours or minutes.

This case report concerns a multigravida woman (G2) who was 19+4 weeks±2 weeks pregnant and she came to Hakeem Abdul Hameed Centenary Hospital (HAHC) Hospital for medical termination of pregnancy as it was diagnosed with exencephaly one of a neural tube defect in growing fetus. She had been married for 6 years and this was her second pregnancy. She had not taken any folic acid supplementation and came to Hakeem Abdul Hameed Centenary Hospital (HAHC), New Delhi on October 3, 2017 for medical termination of pregnancy as it was diagnosed in level-II USG done elsewhere, neural tube defects (exencephaly) in fetus. She was unable to remember her LMP and it was a spontaneous conception and she did not come to know about her pregnancy even after 1½ months of amenorrhea since she had irregular menstruation.
She had her first ultrasound on 28.06.2017 which showed a hematoma measuring 15m×6.0 mm near to the gestation sac. Again ultrasound was advised on 3.10.17, in which the fetus showed absence of calvarial bones in bilateral parietal, temporal and occipital region with presence of calvarium in frontal region. The fetal brain showed enlarged cerebral hemisphere and herniating posteriorly and directly exposed to the CSF. The cerebellum and brainstem were poorly formed. Her first child also was a case of tuberous sclerosis with symptomatic epilepsy.