Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction. In some cases, additional brain anomalies such as schizencephaly can occur, leading to a more complex presentation known as septo-optic dysplasia plus (SOD+). This case report describes a 2-year-old boy presenting with delayed psychomotor development and visual impairment, ultimately diagnosed with SOD+.
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http://dx.doi.org/10.1016/j.radcr.2024.05.090 | DOI Listing |
Biomedica
November 2024
Servicio de Hospitalización, Hospital Internacional de Colombia, Bucaramanga, Colombia.
Septo-optic dysplasia is a congenital neurological condition with multifactorial etiology, characterized by septum pellucidum agenesis and/or corpus callosum dysgenesis, hypoplasia of the chiasm or optic nerves, and hormonal dysfunction with pituitary or hypothalamic alterations. Diagnosis requires two of these criteria and magnetic resonance is the imaging test of choice. Most cases present with abnormalities of cortical development in the form known as septo-optic dysplasia plus.
View Article and Find Full Text PDFRadiol Case Rep
January 2025
Department of Internal Medicine, NAIHS, Kathmandu, Nepal.
Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder characterized by a combination of optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and midline brain abnormalities, such as the absence of the septum pellucidum or thinning/agenesis of the corpus callosum. Although bilateral optic nerve hypoplasia is more common, unilateral involvement occurs less frequently. When SOD is associated with cortical malformations, such as schizencephaly, it is referred to as Septo-optic dysplasia plus.
View Article and Find Full Text PDFJ Pediatr (Rio J)
October 2024
Faculdade de Medicina da Universidade Federal do Rio de Janeiro (UFRJ), Programa de Pós-Graduação (PPG) em Medicina (Endocrinologia), Rio de Janeiro, RJ, Brazil.
Objectives: Septo-optic dysplasia (SOD) is a relatively rare clinical condition. However, there has been a significant increase in its incidence over the years. Diagnosis is clinical and made when there are at least 2 components of the classic triad: Optic nerve hypoplasia (ONH), midline malformation, and pituitary dysfunction.
View Article and Find Full Text PDFClin Pediatr Endocrinol
October 2024
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Indian J Radiol Imaging
October 2024
Department of Neurology, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Odisha, India.
Posterior pituitary ectopia is a very rare entity in the development of the pituitary gland. Several factors and multiple genes are associated with this entity causing both pituitary and extrapituitary abnormalities. Pituitary abnormalities can be various endocrine problems and extrapituitary abnormalities can be optic nerves and cerebellar hypoplasia, heterotopia, and abnormal vessels.
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