The authors present three patients with the diagnosis of septo-optic dysplasia or 'de Morsier' syndrome. They stress the important role of the ophthalmologist in the diagnosis. With the advent of MRI, subtle central nervous system abnormalities have been recognized. A close ophthalmological and endocrinological follow-up is necessary.
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Septo-optic dysplasia with associated closed lip schizencephaly: "SOD-plus syndrome".
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Department of Ophthalmology and Vision Sciences, University of Toronto, 2075 Bayview Ave, North York, ON, M4N 3M5, Canada.
The Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified During Routine Prenatal Imaging.
Am J Perinatol
January 2025
Department of Pediatrics, Division of Neonatology, Oregon Health & Science University, Portland, United States.
Objective: To determine the prevalence of septo-optic-dysplasia (SOD) in patients with prenatally identified absent cavum septi pellucidi (CSP), agenesis of the corpus callosum (ACC) or dysgenesis of the corpus callosum (DCC).
Study Design: This retrospective chart review investigated neonates prenatally diagnosed with an absent CSP, ACC, or DCC who were admitted to a single quaternary academic medical center in the Pacific Northwest between 2016-2023. This prenatal diagnosis prompted a routine and protocolized postnatal workup for SOD including laboratory evaluation, imaging, and specialty consultation.
Prenatally Diagnosed Absent Septum Pellucidum and Septo-Optic Dysplasia: A Narrative Review and Practical Recommendations for Pediatric Neurologists.
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Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Evaluation of the cavum septum pellucidum is required in standard second-trimester screening fetal anatomy ultrasound scans. The absence of septum pellucidum triggers further evaluation and referral for subspecialty counseling. Absence of septum pellucidum is linked to other midline anomalies including septo-optic dysplasia.
View Article and Find Full Text PDFSleep 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.
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