Neuroimaging of Septo-Optic Dysplasia-Plus With Midbrain Hypoplasia and Ophthalmoplegia [PDF]
ENeurologicalSci, 2020 Septo-optic dysplasia is a rare brain malformation that can be associated with anomalous cortical development, such as schizencephaly, which is referred to as septo-optic dysplasia plus.
Daniel Thomas Ginat
exaly +4 more sources
Neuro-Ophthalmological Manifestations of Septo-Optic Dysplasia: Current Perspectives [PDF]
Eye and Brain, 2019 Mario Ganau,1 Sibel Huet,1 Nikolaos Syrmos,2 Marco Meloni,3 Jayaratnam Jayamohan1 1Department of Neurosurgery, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 2Department of Neurosurgery, School of Medicine, Aristotle University of ...
Nikolaos Syrmos, Mario Ganau, Sibel Huet
exaly +4 more sources
Septo-optic dysplasia PLUS syndrome in a 23 years old patient: A case report [PDF]
Radiology Case Reports, 2023 Septo-optic dysplasia (SOD) is a rare malformation defined by septum pellucidum abnormalities and hypoplasia of the optic nerves and chiasm. It can be associated with cortical development malformations such as schizencephaly, which is then called septo ...
Yahya EL Harras, MD +5 more
doaj +2 more sources
Septo-optic dysplasia in an infant [PDF]
Radiology Case Reports, 2022 Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his
Ermira Aliu, MD +14 more
doaj +2 more sources
Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report [PDF]
Radiology Case ReportsSepto-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction.
Sara Essetti +6 more
doaj +2 more sources
Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo‐Optic Dysplasia in a Small‐for‐Gestational‐Age Infant—A Case Report [PDF]
Clinical Case ReportsSepto‐optic dysplasia (SOD) is a rare condition with highly heterogenous clinical manifestations and can be a diagnostic challenge. It can present with pituitary hormone deficiencies, growth failure, visual impairment, and neurological symptoms.
Yuan Rui Leon Tan +4 more
doaj +2 more sources
Unilateral schizencephaly open lip with septo optic dysplasia in adult woman with glaucoma: A rare case [PDF]
Radiology Case ReportsThis case report presents a 38-year-old female with unilateral open-lip schizencephaly coexisting with septo-optic dysplasia. The patient lacked motor deficits, maintaining normal developmental milestones.
Eppy Buchori Aristiady +2 more
doaj +2 more sources
Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report [PDF]
Journal of Yeungnam Medical Science, 2023 Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain ...
Jeong A Ham, Sung Hyun Kim, Donghwi Park
doaj +2 more sources
Rare encounter: Adult-onset temporal lobe schizencephaly with septo-optic dysplasia - a case report on comprehensive diagnosis and management [PDF]
Radiology Case ReportsThis case report presents a 21-year-old male with recurrent seizures attributed to isolated temporal lobe closed-lip schizencephaly coexisting with septo-optic dysplasia. Despite adult-onset seizures, the patient lacked motor deficits, maintaining normal
Sundar Suwal, MD +6 more
doaj +2 more sources
Biological pathways leading to septo-optic dysplasia: a review [PDF]
Orphanet Journal of Rare DiseasesBackground The precise etiology of septo-optic dysplasia (SOD) remains elusive, to date a complex interaction between genetic predisposition and prenatal exposure to environmental factors is believed to come into play.
Ludovica Pasca +7 more
doaj +2 more sources