Imaging diagnosis of septo-optic dysplasia. Regarding a case.

Abstract

Introduction:  Septo-optic dysplasia (SOD), also known as De Morsier syndrome, described in 1956, is a rare disruption of forebrain development, with an estimated prevalence of 1 in every 50,000 live births. It is characterized by hypoplasia of the optic nerve, absence of the septum pellucidum, and, in two-thirds of cases, hypothalamic-pituitary dysfunction, forming part of the spectrum of holoprosencephaly. Risk factors include maternal diabetes, young maternal age, preterm birth, preeclampsia, exposure to certain drugs, substance abuse, and viral infections such as cytomegalovirus.

Clinical case: 14-year-old female adolescent with congenital nystagmus and myopia, treated through the use of corrective lenses. He has delays in general development and language. Among additional symptoms, he has recurrent headaches and occasional myoclonic movements, which have not been consistent or progressed in frequency. Regarding the obstetric history, the patient had a cesarean section due to the presence of premature rupture of membranes (PROM).

Conclusion: Septo-optic dysplasia requires a diagnostic approach that combines prenatal ultrasound and magnetic resonance imaging (MRI). Ultrasound is essential for the initial detection of structural abnormalities in the fetal period. At the same time, MRI offers detailed confirmation of typical disease features, such as hypoplasia of the optic nerve and the absence of the septum pellucidum. This combined diagnostic strategy is essential to optimize clinical management and highlights the importance of longitudinal studies that allow the development of diagnostic criteria.