Figure 3.

TUBB3-MCD brain malformations in individual harboring a TUBB3 T178M substitution. 17-month-old born at term presented with microcephaly, global developmental delay, axial hypotonia, appendicular hypertonia, and infantile spasms and underwent MR imaging. (A) Midline sagittal MR image: agenesis of the corpus callosum and anterior commissure, dysmorphic dilated ventricles, uplifted hypoplastic cerebellar vermis with enlarged CSF spaces, effaced aqueduct, malformed brainstem with flattened pons (asterisk). (B) Posterior coronal MR image: enlarged ventricles (V), bilateral hypoplasia of the caudate body and tail (white arrowhead), abnormal under-rotated left hippocampus (white arrow), abnormally oriented cerebellar folia, and thickened malformed cortex in the left Sylvian fissure (red boxed region). (C) Caudal axial MR image: hypoplastic malformed cerebellar vermis (black arrow) and hemispheres, flatted left pyramidal track (black arrowhead) and enlarged CFS spaces. (D) Rostral axial MR image: malformation of the basal ganglia with fusion of the caudate and putamen with no visible anterior limb of the internal capsule (black arrow), rounded globular-appearing thalami (T), ventricular enlargement, and thickened malformed cortex around the left Sylvian fissure (red boxed region).