Schizencephaly: a rare case with early diagnosis, management and review of literature

Abstract

Schizencephaly or split brain is an uncommon congenital disorder of cerebral cortical development, belonging to the group of cell migration defects. It is characterized by the presence of a cleft in the brain extending from the surface of the piamater to the cerebral ventricles. A 21-year-old primigravida at 19+2 weeks of gestation was referred to our Outpatient department with a level-2 ultrasound done at 18+2 weeks suggestive of schizencephaly. First trimester genetic screening was not done. Quadruple testing was normal. After genetic consultation and poor prognostication by neonatologist, decision for medical termination of pregnancy was taken. Patient underwent medical termination with mifepristone -misoprostol regimen. A female abortus weighing 200 gm was delivered. Gross examination showed only facial malformation in the form of cleft lip and hypoplastic nose. Infantogram did not reveal any skeletal deformity. On fetal autopsy, findings were consistent with the diagnosis of schizencephaly (type 1). Schizencephaly is a rare disorder in prenatal medicine with grave prognosis. Majority of cases are either diagnosed at late gestation or present in the first decade of life. Hence with periodic surveillance during antenatal care and help of ultrasonography, such rare and serious congenital malformations can be diagnosed and managed at an early stage.