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Schizencephaly - open lip

Case contributed by Frank Gaillard
Diagnosis certain

MRI brain

mri

A number of congenital developmental abnormalities are demonstrated. Most notably, extending from the left lateral ventricle to the posterior cortex of the left frontal lobe is a grey matter lined CSF cleft. The grey matter lining this defect, and seen quite extensively in the perisylvian grey matter, is abnormal consistent with a finely nodular surface and grey white matter junction. Similar abnormal grey matter is seen involving the posterior frontal lobe on the right, without evidence of an associated cleft. The septum pellucidum is absent. The optic apparatus appears normal. The falx is present, and no abnormal fusion across the midline can be identified. The corpus callosum is normally formed. The posterior fossa is unremarkable.

Case Discussion

This case demonstrates typical appearances of schizencephaly (open lipped type) with associated polymicrogyria (bilateral). The absence of the septum pellucidum raises the possibility of septo-optic dysplasia (a common association), although in this case the optic apparatus appears unremarkable. 

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