Results 61 to 70 of about 279,200 (174)
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.
Mashael AlKhateeb +4 more
doaj +1 more source
Septo-optic dysplasia (Morsier syndrome) [PDF]
Se presentan dos casos de displasia septoóotica o Síndrome de Morsier, una entidad del sistema nervioso que sólo se puede confirmar por medio de neuroimágenes.
Lubinus Badillo, Federico +1 more
core
Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini +50 more
wiley +1 more source
Septo-optic dysplasia and psychiatric disorders: a case report
Septo-optic dysplasia, a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome in which the midline defects may be implicated in psychiatric disturbances. OBJECTIVE: To describe a case of septo-optic
MONTALBETTI, LORENZA +6 more
core +1 more source
Abstract Acquired hypothalamic obesity (aHO) is characterized by rapid and persistent weight gain resulting from structural or functional damage to the hypothalamus, typically accompanied by neuroendocrine dysfunction. While aHO is well described in the context of hypothalamic or suprasellar tumors, particularly craniopharyngioma, little is known about
Julian Witte +5 more
wiley +1 more source
Recurrent Septo-Optic Dysplasia Accompanied by Omphalocele: A Case Report
Septo-optic dysplasia, also known as de Morsier syndrome, is a rare congenital entity almost always characterized by hypoplasia/dysplasia of the optical nerve, chiasma or optic radiations and the complete or partial absence of the septum pellucidum.
Yildirim, Fatma Doga +4 more
core +1 more source
Septo-optic dysplasia syndrome: a case report
Objective: Septo-optic dysplasia consists of optic nerve and septum pellucidum dysgenesis. This syndrome is divided into two subgroups (with or without schizencephaly) based on embryological and neuropathologic findings.
Nikkhah, A, Ashrafi, MR, Alizadeh, H
core +1 more source
Anophthalmia Plus Syndrome: A Case Report of Severe Ocular and Systemic Anomalies in a Neonate
Anophthalmia is a severe congenital ocular malformation characterized by the complete absence of one or both eyes, distinct from microphthalmia, in which the eye is significantly underdeveloped. This case report details a male infant born at 37 weeks of gestation via cesarean section because of a transverse lie and placental abruption, with low birth ...
Zainab Abushgair +7 more
wiley +1 more source
Empty sella turcica (EST) is a radiological condition frequently associated with idiopathic intracranial hypertension (IIH), typically presenting with headache and visual disturbances. Seizures are rarely reported in this context. We report the case of a 41‐year‐old woman presenting with new‐onset generalized tonic–clonic seizures preceded by a 15‐day ...
Karim Lakhdar +7 more
wiley +1 more source
Carbogen Inhalation Therapy for Epileptic Seizures: Mechanisms, Evidence, and Future Directions
Carbogen, a low‐dose CO2/O2 mixture, modulates brain pH to suppress hyperexcitability through rapid and reversible pH‐dependent mechanisms distinct from conventional antiseizure medications (ASMs). Preclinical and small clinical studies show efficacy in focal and absence seizures, whereas variable responses in other types highlight the need for ...
Li Wang +5 more
wiley +1 more source

