A Case of Unilateral Closed-lip Schizencephaly Combined with Hypomyelination In Neonate

Background: Schizencephaly and hypomyelination are two different abnormity.Rarely study reports schizencephaly combined with hypomyelination. Case presentation: This study described a case of unilateral closed-lip schizencephaly combine with hypomyelination. This case with refractory epilepsy onset at earlier age and had poor prognosis. The novo GPSM2 c.1789T>C mutation was found in this case. GPSM2 c.1789T>C mutation may be an underlying mechanism for schizencephaly combined hypomyelination. Conclusions: : In this study, we present a case of schizencephaly combined with hypomyelination presented severe clinical manifestations at neonate. The novo GPSM2 c.1789T>C mutation may be an underlying mechanism for schizencephaly combined with hypomyelination.