Septo-optic dysplasia with schizencephaly

Case contributed by Dr Sangeet Bhalla


35-year-old male patient with congenital blindness and recurrent seizures (myoclonic type).

Patient Data

Age: 35 years
Gender: Male

Selected MR images show nipple like ependymal projection in the region of the left lateral ventricle body (parietal region) which is lined by grey matter signal reaching up to the cortical surface on axial T2WI/FLAIR. Coronal T1WI are also showing this abnormality.

T2 axial and FLAIR axial and T1 coronal images demonstrated thinned optic nerves.

Sagittal T1WI/T2WI images are showing hypoplastic rostrum/genu of corpus callosum

Case Discussion

Patients clinical history coupled with MR findings are suggestive of closed lip schizencephaly with septo-optic dysplasia and possible dysgenesis of the corpus callosum.

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Case information

rID: 52150
Published: 31st Mar 2017
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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