Table 2.

Brain magnetic resonance imaging (MRI) abnormalities in the 9 symptomatic patients

Patient No.	Age	Brain MRI findings
1	3 y	Diffuse symmetrical long T1 and T2 signals, T2FLARE high signal, DWI high signal in bilateral cerebral hemisphere white matter involving the corpus callosum, bilateral globus pallidus, and the dorsal brainstem.
2	7 y	T2 high-intensity signal in bilateral cerebral hemisphere white matter (Fig. 1A).
3	3 y 4 m	Diffuse high-intensity T2WI and FLAIR signals in the cerebral white matter and corpus callosum, with low ADC values (Fig. 1B).
4	4 y	Long T1 and T2 signals, and T2 FLARE high signals in bilateral cerebral hemisphere white matter area, medulla, dorsal midbrain, and dorsal pons; and increased T2WI signal in bilateral anterior limb of internal capsule, globus pallidus, and corpus callosum (Fig. 1C).
5	11 y	Long T1 and T2 signals, T2 FLARE high signal, and DWI high signal in bilateral cerebral hemisphere white matter, bilateral internal capsule, corpus callosum; and T2 long signal in bilateral midbrain, pons, and medulla oblongata.
6	1 y 6 m	Demyelination of subcortical white matter of the occipital lobe (Fig. 1D).
8	3 y	Abnormal signal in white matter of the left parietal lobe.
12	5 y	Abnormal signals in white matter, globus pallidus, and brainstem of both cerebral hemispheres.
15	2 y	Demyelination of white matter in bilateral cerebral hemispheres.