Lissencephaly with cerebellar hypoplasia
Developmental delay, hypotonia, and focal seizures.
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CT shows decreased number and size of cerebral sulci and markedly thickened of the cortex (agyria-pachygyria complex).
The cerebellar hemispheres and vermis are small and hypoplastic. The brainstem appears thin and flattened.
The fourth ventricle connects with cisterna magna.
Findings compatible with lissencephaly (smooth brain) and cerebellar hypoplasia.
Lissencephaly comprises a group of malformations caused by anomalous neuronal migration.
Lissencephaly with cerebellar hypoplasia is a subgroup of lissencephaly, which is not included in either classical type 1 or cobblestone types.