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Paediatric Imaging

Pachygyria

neuronal migration disorder which results in broad, flattened gyri and occasionally is described as incomplete lissencephaly. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation. Infantile spasms are common in affected children, as is intractable epilepsy.

In some patients there are mutations of chromosome 17 and Xq22 but others will have no specific chromosomal marker. Those with chromosome 17 mutations more frequently have areas of pachygyria in the frontal and temporal regions, whereas those with Xq22 abnormalities often have abnormalities in the frontal lobe.

Areas of pachygyria associated with agyria constitute the classical lissencephaly. This is more common than complete lissencephaly, where the whole brain is smooth. Areas of pachygyria showing thickened cortex with broad gyri and shallow sulci can be distinguished from areas of polymicrogyria with high resolution imaging. In pachygyria, the distinction between the grey and white matter interface is clear, whereas in polymicrogyria the junction is irregular. Pachygyria can be focal or widespread, but when focal is frequently bilateral and posterior in position. When diffuse, it is more common in the parieto-occipital region. MRI is particularly good at demonstrating neuronal migrational abnormalities (Fig.1).

NW

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Fig.1

a. Coronal T1-weighted, and b. transverse T2-weighted MR images showing bilateral symmetrical thickening of the cerebral cortex in the parieto-occipital regions of the cerebral hemispheres.
Pachygyria, Fig.1 (a)
Pachygyria, Fig.1 (b)