Perinatal palliative care in an infant with exencephaly: Supporting life beyond 3 years of age

Abstract

Neural tube defects are the second most common type of fetal malformation in humans. Encephalocele, a type of neural tube defect, can be defined as a sack-like protrusion of brain tissue herniating through an opening hole in the skull. Its prognosis depends on the location, size, the amount of brain tissue involved, and the presence of other intracranial anomalies. Exencephaly, another type of neural tube defect, is characterized by an incomplete covering of the skull, resulting in an exposed fetal brain. It is described in the literature as incompatible with extrauterine life and, in most cases, evolves into anencephaly before birth. We present the case of a newborn that was diagnosed at 13 weeks of gestational age with encephalocele, which later in pregnancy converted into exencephaly. The parents chose an approach of comfort/palliative care; the child is still alive at 3 years of age. This case highlights how perinatal palliative care can help manage patients with neural tube defects and optimize family outcomes.