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Midbrain-hindbrain involvement in septo-optic dysplasia
M Severino1, A E M Allegri2, A Pistorio3
1From the Neuroradiology Unit (M.S., A.R.) mariasavinaseverino@ospedale-gaslini.ge.it.
AJNR. American Journal of Neuroradiology
|April 26, 2014
Summary
Midbrain-hindbrain abnormalities are common in septo-optic dysplasia, impacting brain stem development. These findings correlate with developmental delay in affected patients.
Area of Science:
- Neuroscience
- Developmental Biology
- Radiology
Background:
- Septo-optic dysplasia (SOD) is a congenital disorder affecting optic nerve and pituitary development.
- Midbrain-hindbrain involvement in SOD is underreported, despite genetic links to brain stem patterning.
Purpose of the Study:
- To characterize midbrain-hindbrain abnormalities in patients with SOD.
- To identify clinical and neuroimaging correlations of these abnormalities.
Main Methods:
- MR imaging analysis of 38 patients with SOD, categorized by presence (Group A) or absence (Group B) of brain stem anomalies.
- Measurement of midbrain, pons, and medulla dimensions, M/P ratio, vermian height, and tegmento-vermian angle.
- Comparison with 114 healthy controls and investigation of clinical-radiological associations.
Main Results:
- Patients with brain stem anomalies showed smaller pons and medulla diameters, higher M/P ratio, and reduced pontine and vermian height compared to controls.
- Associated findings included thickened quadrigeminal plate, aqueductal stenosis, hydrocephalus, and epithalamic agenesis in some patients.
- Brain stem abnormalities significantly correlated with callosal dysgenesis and developmental delay.
Conclusions:
- Midbrain-hindbrain abnormalities are a significant, often unrecognized, feature of the SOD spectrum.
- These abnormalities are strongly associated with developmental delay in patients with SOD.
