Figure 2.

Radiological characterisation of LIS. Cerebellar hypoplasia/dysplasia, dysmorphic basal ganglia, thin or absent corpus callosum, ventricular dilation, and abnormalities of the hippocampus and brainstem are useful diagnostic indicators of tubulin gene involvement. Severe cerebellar/brainstem hypoplasia is also seen in association with RELN/VLDLR and NDE1 mutations. In the presence of intracranial calcifications and ventriculomegaly, congenital CMV/TORCH infection needs to be excluded. LIS, lissencephaly.