Septo-optic Dysplasia

Findings:

Coronal T2 weighted images demonstrate absence of the septum pellucidum, fusion of the forniceal columns, hypoplastic optic chiasm, and hypoplastic bilateral optic nerves.

Discussion/Differential Diagnosis:

Septo-optic dysplasia (SOD) is AKA de Morsier syndrome, and is the least severe of the congenital anomalies along the holoprosencephaly spectrum. Characteristic findings include absence of the septum pellucidum, hypoplastic optic nerves and chiasm, hypoplastic pituitary, enlarged anterior recess of third ventricle, and a thin corpus callosum. Schizencephaly may be seen in 50%, and has different clinical manifestations with less visual problems but more migrational anomalies. Risk factors include maternal diabetes, quinidine, antiepileptics, drugs/EtOH, CMV infection. Whether or not assd with schiz affects management- treatment of HPA dysfxn and vision w no schiz, sz and MRDD if schiz.

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