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Open lip schizencephaly

Case contributed by Huda B. Gharbia
Diagnosis almost certain

Presentation

Seizure, delayed developmental milestones.

Patient Data

Age: 3 years
Gender: Male

Brain

mri

There are bilateral clefts extending from pial surface of both frontal lobes to ependymal surface of both lateral ventricles, lined by isointense grey matter and separated by CSF.

Also noted absent septum pellucidum, with thinning and partial agenesis of corpus callosum anteriorly.

Extensive right hemispheric grey matter heterotopia/polymicrogyria. 

Case Discussion

Bilateral widely separated cerebral clefts lined by grey matter, suggestive of open lip schizencephaly. Associated absent septum pellucidum and partial agenesis of corpus callosum.

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