Patricia Alessandra Dastoli

Endoscopic third ventriculostomy for diencephalosynapsis-related hydrocephalus in MPDZ gene syndrome: a case report and review of the literature

Abstract Purpose MPDZ syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in MPDZ (9p23) and typically managed with ventriculoperitoneal shunting (VPS). Recent characterization of MPDZ-related hydrocephalus as an obstructive process—driven by d...