Turner syndrome associated with cerebellar abnormalities

Abstract

We present an autopsied fetus with Turner syndrome (TS), obtained after a therapeutic abortion at the Clinic of Obstetrics and Gynecology at the University Hospital, Plovdiv, Bulgaria. It was a female fetus weighing 75 g. The chorionic villus sampling followed by karyotyping established monosomy XO. The fetal autopsy confirmed agenesis of the cerebellar vermis and cerebellar hypoplasia. The immunohistochemical study of the brain with S100 protein (S100), glial fibrillary acidic protein (GFAP), neuron-specific enolase (NSE), and cluster of differentiation 68 was taken into consideration. The presence of extensive gliosis reaction is proved in the cerebellar structures of TS by the positivity of glial markers: (GFAP) and S100 protein. The quantity of neurons proved by NSE marker is probably associated with the deficiency of differentiation and cell migration caused by inhibition in the development of young cells. The presented case of TS found a new phenotype with cerebellar abnormalities described for the first time.