A patient with septo-optic dysplasia plus

Area of Science:

• Neurodevelopmental disorders
• Pediatric neurology
• Medical imaging

Background:

• Septo-optic dysplasia (SOD) is a congenital disorder affecting midline brain development, optic nerves, and pituitary function.
• SOD-plus encompasses additional cerebral cortical abnormalities, often leading to developmental delay and motor deficits.
• Understanding the spectrum of SOD-plus is crucial for accurate diagnosis and management.

Observation:

• A case of SOD-plus presented with unusual bilateral insular cortex thickening on MRI.
• This cortical dysplasia was mild and not associated with significant neurological deficits.
• The patient experienced only a single, brief seizure episode.

Findings:

• The MRI findings revealed thickened bilateral insular cortices in the SOD-plus patient.
• Despite cortical abnormalities, the patient exhibited minimal signs of cortical dysfunction.
• Optic nerve hypoplasia and pituitary dysfunction were consistent with classic SOD.

Implications:

• This case expands the known spectrum of cerebral abnormalities in SOD-plus.
• Mild insular cortex thickening may represent a variant presentation of SOD-plus.
• Further research is needed to correlate specific cortical changes with clinical phenotypes in SOD-plus.