Presentation
Absence seizures since childhood.
Patient Data
Bilateral lateral occipital pachygyri with thick cortex and reduced cortical sulcation, associated with adjacent reduced volume of white matter, occipital horn dilatation, and occipital periventricular gliosis. Bilateral small areas of polymicrogyria are seen at the junction in the parieto-occipital junction (evident on the sagittal series).
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. Dilatation of the Occipital horns of the lateral ventricles and adjacent white matter gliosis.
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