Septo-optic dysplasia (SOD) is defined by the presence of 2 or more features in a diagnostic triad: (1) optic nerve hypoplasia, (2) pituitary dysfunction, and (3) midline forebrain anomalies. SOD arises due to diverse pathogenetic mechanisms including acquired and genetic factors, and it shows considerable clinical and phenotypic variability. Our knowledge of SOD is incomplete in part because of a paucity of published neuropathology data, so we reviewed the autopsy neuropathology of 4 SOD patients. All patients met SOD criteria according to the triad. Additional neuropathologic findings included malformations involving non-forebrain structures and possible secondary phenomena. Autopsies demonstrate that SOD patients often have additional neuropathologic findings beyond the triad and we feel that use of the term SOD-complex appropriately underscores this diversity and its likely clinical impact. This study suggests that autopsies enhance our understanding of SOD and may be an asset in performing needed clinical and phenotypic correlation studies.
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Sleep profile in patients with septo-optic-pituitary dysplasia: protocol for a prospective cohort study.
BMJ Open
January 2025
IRCCS Mondino Foundation, Pavia, Italy
Introduction: Children with septo-optic-pituitary dysplasia (SOD) may experience a range of visual impairments and hormonal dysfunctions beyond developmental delay/intellectual disability. The literature describes sleep fragmentation, circadian rhythm disruptions and reduced sleep efficiency. These manifestations are believed to be closely linked to both structural and functional abnormalities associated with SOD, potentially disrupting the natural circadian rhythm.
View Article and Find Full Text PDFMorbidities and comorbidities associated with optic nerve hypoplasia and septo-optic-pituitary dysplasia.
Dev Med Child Neurol
January 2025
Department of Community Health Sciences, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Aim: To quantify optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) morbidities and comorbidities.
Method: A retrospective population-based study with a case-control design was undertaken using administrative health data from Manitoba, Canada. Cases were 124 patients with ONH or SOD (70 males, 54 females; age range 6 months-36 years 8 months [mean 13 years, SD 7 years 2 months]) diagnosed from 1990 to 2019, matched to 620 unrelated population-based controls (350 males, 270 females; age range 0-36 years 8 months [mean 12 years 5 months, SD 7 years 2 months]) on birth year, sex, and area of residence.
Septo-optic dysplasia plus: A case report for reviewing and recognizing this condition.
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 PDFExploring the diverse imaging spectrum of Septo-optic dysplasia: A case series.
Radiol 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 PDFClinical, laboratory and neuroimaging profile of patient's cohort with septo-optic dysplasia treated at a pediatric university hospital.
J 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.
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