Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

Abstract We described the clinical course and pathological findings in a child with TUBA1A mutation. MRI revealed marked ventricular dilation with thin cortex, poorly differentiated basal ganglia, agenesis of corpus callosum, cerebellar hypoplasia with preserved vermis at 2 months of age. No gain of developmental milestones was observed until she died with respiratory failure at 23 months of age. A de novo missense mutation of c.1096G>A (G366R) was identified in TUBA1A gene. Pathological findings included a lack in lamination in the cerebral cortex, absent corpus callosum without Probst bundle, blurred demarcation among the striatum, internal capsule and globus pallidus in association with irregular running of myelinated fibers, cerebellar hypoplasia with irregular undulation in the dentate nucleus and inferior olivary nucleus, absent olfactory bulbs and tracts, and pyramidal tract hypoplasia. These findings are consistent with previous reports and will be a clue to diagnosis of TUBA1A mutation.