A Case of Acalvaria in a Full Term, Live Born Male Infant

Abstract

Acalvaria is a rare cranial vault defect characterized by the presence of the cerebellum and cerebral cortex with the absence of the calvarium above the orbits, intact facial structures, and the presence of dura mater. Unfortunately, this diagnosis comes with a dim prognosis that is not compatible with life long-term. First-trimester diagnosis with ultrasonography can establish the diagnosis. If imaging is equivocal, advanced imaging with fetal MRI has a role to aid in distinguishing between similar cranial vault defects that fall on the spectrum including anencephaly, exencephaly, and acrania. We present the case of a term male infant with known acalvaria diagnosed incidentally on prenatal ultrasound that was delivered by cesarean section to a G3P3 mother at the time of delivery with two prior uncomplicated pregnancies. Maternal history was rather insignificant except for gestational diabetes and gestational hypertension well-controlled without medication. After initiation of comfort measures only, the infant expired on day of life two.