Lissencephaly with cerebellar hypoplasia

Case contributed by Dr Ayaz Hidayatov

Presentation

Developmental delay, hypotonia, and focal seizures.

Patient Data

Age: 9 months
Gender: Male

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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Case information

rID: 54869
Case created: 3rd Aug 2017
Last edited: 7th Aug 2017
Inclusion in quiz mode: Included

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