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Septo-optic dysplasia plus: a spectrum of malformations of cortical development
S P Miller1, M I Shevell, Y Patenaude
1Departments of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.
Insights
Septo-optic dysplasia (SOD)-plus involves SOD with cortical development malformations, leading to developmental delay and motor deficits in children. This condition requires consideration in pediatric cases presenting with SOD and delayed development.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatric Neurology
Background:
- Septo-optic dysplasia (SOD) is a congenital disorder typically characterized by optic nerve hypoplasia, pituitary abnormalities, and midline brain structural defects.
- Previous literature has primarily associated cortical malformations in SOD with schizencephaly.
Observation:
- This study details three pediatric cases exhibiting SOD-plus, defined as SOD accompanied by associated malformations of cortical development.
- All observed children presented with developmental delay, and two experienced significant motor deficits.
Findings:
- The associated cortical malformations in SOD-plus represent a broader spectrum of neuronal organization disorders than previously recognized.
- These malformations are not exclusively limited to schizencephaly, indicating a more complex range of brain development issues.
Implications:
- The findings suggest that SOD-plus should be suspected in children diagnosed with SOD who also exhibit developmental delay.
- This expanded understanding of cortical malformations associated with SOD may aid in earlier diagnosis and more comprehensive management strategies for affected children.
Abstract:
The authors describe three children with septo-optic dysplasia (SOD)-plus: SOD and an associated malformation of cortical development. All three children had developmental delay, and two of the children had significant associated motor deficits. The associated cortical malformations with SOD include a spectrum of disorders of neuronal organization, not limited, as previously described, to schizencephaly. SOD-plus should be suspected in children with SOD and developmental delay.