[Congenital mydriasis as an initial sign of septo-optic dysplasia].
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.
Sección de Neuropediatría, Complejo Hospitalario Universitario de Albacete, Albacete, España. Electronic address: mccarrascosa@sescam.jccm.es.
M C
MC
Carrascosa-Romero
R
R
Ruiz-Cano
F
F
Martínez-López
B
B
Alfaro-Ponce
A
A
Pérez-Pardo
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001284:Atrophy; D001766:Blindness / Q000209:etiology; D002465:Cell Movement; D002552:Cerebral Ventricles / Q000002:abnormalities; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D015878:Mydriasis / Q000151:congenital* / Q000209:etiology; D009900:Optic Nerve / Q000473:pathology; D010902:Pituitary Gland / Q000002:abnormalities; D025962:Septo-Optic Dysplasia / Q000175:diagnosis*; D012688:Septum Pellucidum / Q000002:abnormalities
Agenesia septum pellucidum; Agenesis septum pellucidum; Alteración migración neuronal; Amaurosis; Congenital mydriasis; Displasia septo-óptica; Hipoplasia nervio óptico; Impaired neuronal migration; Midriasis; Midriasis congénita; Morsier syndrome; Mydriasis; Optic nerve hypoplasia; Septo-optic dysplasia; Síndrome de Morsier