Table 2.

Brain Imaging Features of Individuals with TRAPPC12-Related Encephalopathy and Brain Atrophy

MRI Feature	1:II-8	2:II-1	2:II-4
Age at MRI	8 months	3 days, 11 months	4 days
Severe cortical atrophy	yes	yes	yes
Ventriculomegaly	yes	yes	yes
Prominent extra-axial spaces	yes	yes	yes
Simplified frontal gyri	yes	yes	yes
Increased T2 signal in cortical white matter	yes	yes	yes
Agenesis of the corpus callosum	severe thinning with absent posterior body, isthmus, and splenium	complete absence	severe thinning with absent posterior body, isthmus, and splenium
Relatively spared basal ganglia	yes	yes	yes
Small optic chiasm	yes	yes	no
Severe pons hypoplasia	yes	yes	yes
Cerebellar hypoplasia	no	mild	mild
Other	none	high T2 signal in optic chiasm, bilateral cerebellar hemorrhage, effacement of the posterior extra-axial spaces	unilateral cerebellar hemorrhage