Septo-optic dysplasia

Case contributed by Dr Ian Bickle

Presentation

19 year-old female with epilepsy, visual problems and low mood. Adopted child. Mother thought to have used illicit substances during pregnancy.

Patient Data

Age: 19
Gender: Female
MRI

Gracile left optic nerve.

Cortical dysplasia and closed lip schziencephaly in the right parietal lobe.

Absent septum pellucidum.

Previous posterior fossa decompression.

Cervicothoracic cord syrinx.

CT

Previous posterior fossa decompression.

Gracile left optic nerve.

Cortical dysplasia and closed lip schziencephaly in the right parietal lobe.

Absent septum pellucidum.

Case Discussion

Septo-optic dysplasia (SOD) is a condition characterized by optic nerve hypoplasia and absence of septum pellucidum. It may also be associated with Chiari malformations and pituitary hypofunction.

This case illustrates an appropriate antenatal history along with most of the described radiological findings of:

- optic nerve dysplasia

- absent septum pellucidum

- schziencephaly

- cortical dysplasia

- Chiair malformation ( operated )

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