Lissencephaly

Case contributed by Amro Omar
Diagnosis certain

Presentation

Generalized tonic-clonic seizures and developmental delay.

Patient Data

Age: 3 months
ct

CT demonstrates primitive Sylvian fissures leading to an "hour-glass" configuration of the brain. Ventriculomegaly, frontal pachygyria, and occipital agyria are also presented. 

mri

MRI shows only a few shallow sulci and shallow Sylvian fissures, the cortex is markedly thickened measuring 12-20mm (rather than the normal 3-4mm), and diffuse white matter demyelination with white matter cysts. 

Case Discussion

Lissencephaly type I is a heterogeneous group of disorders of cortical formation characterized by a smooth brain, with absent or hypoplastic sulci and is strongly associated with subcortical band heterotopia (see classification system for cortical malformations).

Beware that agyric (smooth) cortex is normal up to 26 weeks of gestation age.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.