Carrascosa-Romero M.C., Ruiz-Cano R., Martinez-Lopez F., Alfaro-Ponce B., Perez-Pardo A.

"Sección de Neuropediatría, Complejo Hospitalario Universitario de Albacete, Albacete, Spain; Sección de Endocrinología Pediátrica, Complejo Hospitalario Universitario de Albacete, Albacete, Spain; Servicio de Oftalmología, Complejo Hospitalario Universita"

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis