Presentation
Seizures.
Patient Data
Bilateral occipital pachygyria-lissencephaly mainly at the lateral aspects with smooth thick cortex and subcortical linear band of high signal (sparse cell layer), associated with bilateral occipital white matter signal abnormality and occipital horn dilatation.
Case Discussion
Occipital pachygyria-polymicrogyria is a rare disease caused by recessive LAMC3 mutation.
Given that genetic testing is not accessible in my country, the diagnosis is presumed based on radiological findings.
Patients usually present with seizures (including myoclonic-astatic, myoclonic-atonic, absence, generalized tonic-clonic), usually associated with transient visual symptoms (like vision loss) and variable (absent to moderate) developmental and/or intellectual delay.
Radiographic features include revealed bilateral occipital pachygyria mainly at the lateral surface, characterized by reduced cortical sulcation and smoothening of the occipital cortices with loss of secondary and tertiary gyri. Polymicrogyria areas at the junction of the parieto-occipital lobes.