Presentation
Developmental delay, hypotonia, and focal seizures.
Patient Data
Age: 9 months
Gender: Male
From the case:
Lissencephaly with cerebellar hypoplasia
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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.
Case Discussion
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.
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