Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course

Abstract

Septo-optic dysplasia (SOD) is a rare disorder associated with optic nerve hypoplasia, pituitary abnormalities and agenesis/dysgenesis of midline brain structures including the septum pellucidum and corpus callosum. Though sometimes associated with drug-resistant epilepsy, this association has not been well studied. We report six SOD patients with associated malformation of cortical development (MCD) and drug-resistant epilepsy who underwent video-EEG telemetry at our centre between 1998 and 2016 for drug-resistant epilepsy. ‬Three then underwent surgery; right temporal neocortical resection, right functional hemispherectomy and placement of a vagus nerve stimulator. Clinical findings and the patients' ultimate courses are discussed.

Septo-optic dysplasia PLUS syndrome in a 23 years old patient: A case report

“…Neurologically, one of the most feared complications is drug-resistant epilepsy, in which focal cortical dysplasia is frequently the cause [12] . Normally, endocrine findings are diagnosed at an early age, with central hypothyroidism and GH deficiency are commonly found.…”

Septo-optic Dysplasia Plus Syndrome

“…SOD has a wide clinical heterogeneity, from asymptomatic to severe disabling symptoms [1]. The most frequently described clinical manifestations include visual manifestations (85%-90%), intellectual delay (42.5%-60%), epileptic seizures (27.5%-55%), and endocrine disorders (50%-55%) [10-11].…”

“…The most frequently described clinical manifestations include visual manifestations (85%-90%), intellectual delay (42.5%-60%), epileptic seizures (27.5%-55%), and endocrine disorders (50%-55%) [10-11]. Neurologically, one of the most feared complications is drug-resistant epilepsy, in which focal cortical dysplasia is the most common cause in this population [1]. In this case, imaging confirmed the presence of focal cortical dysplasia, but epileptic seizures were controlled with two drugs.…”

“…Septo-optic dysplasia (SOD), also known as “de Morsier’s Syndrome,” was first reported in 1956 by the Swiss neurologist George de Morsier who described the following triad: hypoplasia/dysplasia of the optic nerve, hypothalamic-hypophyseal dysfunction, and midline abnormalities (dysgenesis of corpus callosum and/or septum pellucidum) [1]. Years later, the term SOD-plus was suggested to differentiate SOD with associated malformations of cortical development [2].…”

Septo-Optic Dysplasia: A Mini Review

“…SOD was first described by de-Morsier in 1956, after necropsy of a patient showed septum pellucidum agenesis and ONH. Later on in 1970, Hoyt and his team put forth the possibility of hormonal insufficiency in patients with SOD [1].…”