Congenital Holoprocencephaly, Hydrocephalus, and Dandy-Walker Malformation Due to Plasminogen Deficiency

Plasminogen deficiency is an ultra-rare congenital condition with only a few reported cases worldwide, causing the formation of pseudo-membranous, fibrin-rich growths on mucosa throughout the body. In this case report, we present the rare case of a newborn presenting with multiple congenital central nervous system malformations due to severe plasminogen deficiency, in an otherwise completely unattended pregnancy. The mother was admitted to the emergency department due to the onset of labor. Upon routine ultrasound examination, marked macrocephaly and hydroanencephaly were observed. The fetus was delivered by selective cesarean section as fetal head dystocia was highly suspected. Unexpectedly, the neonatal examination immediately post-partum did not reveal any neurological deficits. An MRI was conducted, which confirmed the existence of congenital hydrocephalus, as well as holoprocencephaly, Dandy-Walker malformation, and anatomical anomalies of the fourth ventricle. Specialized further laboratory testing pinpointed severe plasminogen deficiency as the underlying condition. The neonate underwent ventriculoperitoneal shunt placement in an attempt to alleviate the increased intracerebral pressure and survived at least to six months of age, at the time this manuscript was written.