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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 2.

Figure 2.

Representative images of TUBB2B-related tubulinopathies

A-C. Child age three years with cortical dysgyria resembling polymicrogyria. The cortex has a coarse appearance with excessively folded gyri (arrowheads in B). Cortical dysgyria resembling polymicrogyria is associated with complete agenesis of the corpus callosum (A). The basal ganglia are hypertrophic and fused; the lateral ventricles are dysmorphic (B). The cerebellar vermis is dysplastic (arrow in C).

D-F. Individual age 15 years with cortical dysgyria resembling polymicrogyria that appears to be typical with an irregular cortical surface or overfolded cortex aspect and irregularity at the grey-white interface (E). Cortical dysgyria resembling polymicrogyria appears mildly asymmetric and most severe over the central (mid- and posterior frontal, perisylvian, and anterior parietal) regions rather than over the posterior and frontal poles. The superior vermis is dysplastic (F).

G-I. Fetus at 27 weeks' gestation with microlissencephaly. Macroscopic view of the left hemisphere shows agyria with absent sylvian fissure and absent olfactory bulbs (G). Coronal section passing through the hemispheres shows a thin mantle with absence of the corpus callosum, internal capsule, and basal ganglia; enlarged ventricles; and voluminous germinal zones (H). There is diffuse disorganization of the cortical plate with massive overmigration of cells within the meningeal spaces (I).

From: Tubulinopathies Overview

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