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. 2015 Oct 23;5:15165. doi: 10.1038/srep15165

Figure 1. Brain MRI findings of two patients with mutations in TUBA1A.

Figure 1

(a) Foetal MRI at 28 weeks of gestation of patient 1 (T2-weighted image). White arrowheads indicate the basal ganglia. (b–d) MRI findings at 6 days after the birth of patient 1 (b: T1-weighted image; c,d: Fluid Attenuated Inversion recovery [FLAIR]). The patient showed an extremely thin cerebral parenchyma, hypoplastic brain stem, and agenesis of the cerebellum and corpus callosum. Most of the intracranial space was occupied with cerebrospinal fluid. (e–h) MRI findings at 1 year of age of patient 2 (T1-weighted images). The patient showed marked ventricular dilatation with a thin cortex, agyria, or limited pachygyria, poorly differentiated dysmorphic basal ganglia, agenesis of the corpus callosum, and slightly hypoplastic cerebellar vermis. The brain stem appeared to be normal.