Septo-optic Dysplasia Plus Syndrome

Abstract

Septo-optic dysplasia plus is a rare congenital syndrome characterized by the classic triad of optic nerve hypoplasia, hypothalamic-hypophyseal dysfunction, and midline abnormalities, with associated malformations of cortical development. Clinical manifestations include optic nerve disease, epilepsy, intellectual delay, and endocrine dysfunction. We present the case of an 18-year-old man with a history of seizures, growth hormone deficiency, and optic nerve disease that was diagnosed with septo-optic dysplasia plus syndrome with characteristic imaging findings.

The clinical aspects of septo-optic dysplasia: A narrative review with illustrative case report

“…Anomalies of these structures range from complete agenesis to mild dysgenesis or hypoplasia [ 1 , 20 ]. Cortical anomalies were also described in patients with SOD, referred to as SOD-plus syndrome [ 21 ]. Commonly described cortical anomalies include hippocampus anomalies, cortical dysplasia, polymicrogyria, cortical atrophy, and schizencephaly [ 19 ].…”

“…A common example for this is the optic nerve hyperplasia which can occur in SOD or in the more common ONH syndrome [ 2 ]. Moreover, the variety of associated anomalies in SOD plus syndrome (e.g., hydrocephalus, heterotopia, and polymicrogyria) adds to the complexity of differential diagnosis [ 21 ]. Congenital hypopituitarism and holoprosencephaly should be considered in the differential diagnosis list of SOD [ 4 , 22 , 23 ].…”

“…Pituitary abnormalities encountered in SOD include hypoplastic anterior pituitary, ectopic posterior pituitary, thin pituitary stalk, or agenesis of the pituitary stalk. Cortical malformations are not uncommon in SOD such as polymicrogyria, cortical focal dysplasia, cortical atrophy, Schizencephaly, and hippocampus anomalies [ 21 ].…”

Laporan Kasus : Septo Optic Dysplasia (de Morsier Syndrome)

“…Diagnosis septo optic dysplasia ditegakkan berdasarkan ditemukannya minimal dua dari tiga kelainan, yakni hipoplasia saraf optikus, abnormalitas hormon pituitari, dan tidak ditemukannya septum pelusidum. 1,2 Dalam menegakkan diagnosis septo optic dysplasia, pemeriksaan radiologis memiliki peranan yang penting. Modalitas yang dapat digunakan adalah Computed Tomography (CT) Scan dan Magnetic Resonance Imaging (MRI).…”

Co-occurrence of Attention-Deficit/Hyperactivity Disorder and Septo-Optic Dysplasia: A Neurodevelopmental Case Report

“…The SOD-plus syndrome refers to a diagnosis of SOD in addition to cortical malformations including schizencephaly, polymicrogyria, and gray matter heterotopias [ 2 ]. The SOD spectrum refers to individuals with a larger range of congenital anomalies, including a cleft palate, or with more endocrine deficiencies and less visual impairment [ 1 ].…”