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Septo-optic dysplasia plus: A case report for reviewing and recognizing this condition
Alexander Reyes1, Julieth Galvis2, Yilver Estupiñán3
1Grupo para la Renovación Educativa de Medicina Interna (GERMINA), Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia; Servicio de Radiología, Hospital Internacional de Colombia, Bucaramanga, Colombia.
Biomedica : Revista Del Instituto Nacional De Salud
|November 12, 2024
Summary
Septo-optic dysplasia is a rare congenital neurological disorder affecting brain development. Magnetic resonance imaging is crucial for diagnosing this heterogeneous condition, revealing key structural abnormalities.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Septo-optic dysplasia (SOD) is a congenital neurological disorder with diverse causes.
- It is characterized by agenesis of the septum pellucidum, corpus callosum dysgenesis, optic nerve hypoplasia, and pituitary/hypothalamic dysfunction.
- Diagnosis requires at least two of these criteria, with magnetic resonance imaging (MRI) being the preferred diagnostic tool.
Purpose of the Study:
- To present a case study of a 35-year-old male with septo-optic dysplasia.
- To highlight the diagnostic utility of MRI in identifying the complex radiological findings associated with SOD.
- To emphasize the heterogeneity of SOD and the importance of comprehensive radiological evaluation.
Main Methods:
- Case report of a 35-year-old male with a history of head trauma and refractory focal epilepsy.
- Initial assessment included simple cranial tomography.
- Detailed neuroimaging was performed using brain magnetic resonance imaging (MRI).
Main Results:
- The patient presented with agenesis of the septum pellucidum and corpus callosum dysgenesis on initial tomography.
- MRI revealed agenesis of the septum pellucidum, cortical developmental abnormalities (thickening, heterotopic gray matter), mild ventriculomegaly, and hypoplasia of the optic chiasm and nerves.
- These findings align with the heterogeneous presentation of septo-optic dysplasia, including features of "septo-optic dysplasia plus".
Conclusions:
- Agenesis of the septum pellucidum, while a key finding, is not universally present in all SOD cases.
- MRI is essential for detailed evaluation of brain structures, including optic nerve hypoplasia, aiding in SOD diagnosis.
- Recognizing the diverse radiological manifestations is fundamental for accurate diagnosis and management of septo-optic dysplasia.
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