PMC6826334_01
A 6 years old with Pol III-related leukodystrophy who presented with ataxic gait, delayed speech, difficulty with vertical gaze eye movements, and multiple unerupted primary incisor teeth. Magnetic resonance imaging of the brain with axial T2-weighted image at the level of the third ventricle and internal capsule demonstrates abnormal hyperintense T2 signal involving bilateral internal capsules and the white matter of all lobes of both cerebral hemispheres without cerebral parenchymal atrophy. Also noted is mild relative T2 hypointense signal within the anterolateral portions of both thalami.
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F1
T2 hypointense signal within the anterolateral portions of both thalami [Figures 1-3]. These findings were concerning for a diffuse hypomyelinating process. There were no focal areas of restricted diffusion or abnormal enhancement [Figures 4 and 5]. The MRI images also demonstrated moderate cerebellar vermian and mild cerebellar hemispheric atrophy [Figures 6].
A 6 years old with Pol III-related leukodystrophy who presented with ataxic gait, delayed speech, difficulty with vertical gaze eye movements, and multiple unerupted primary incisor teeth. Magnetic resonance imaging of the brain with axial fluid-attenuated inversion recovery (FLAIR) image at the level of the third ventricle and internal capsule demonstrates abnormal hyperintense FLAIR signal involving bilateral internal capsules and the white matter of all lobes of both cerebral hemispheres without cerebral parenchymal atrophy.
JCIS-9-45-g002.jpg
PMC6826334_01_JCIS-9-45-g002.jpg
F2
T2 hypointense signal within the anterolateral portions of both thalami [Figures 1-3]. These findings were concerning for a diffuse hypomyelinating process. There were no focal areas of restricted diffusion or abnormal enhancement [Figures 4 and 5]. The MRI images also demonstrated moderate cerebellar vermian and mild cerebellar hemispheric atrophy [Figures 6].
A 6 years old with Pol III-related leukodystrophy who presented with ataxic gait, delayed speech, difficulty with vertical gaze eye movements, and multiple unerupted primary incisor teeth. Magnetic resonance imaging of the brain with axial non-contrast T1 image at the level of the third ventricle and internal capsule demonstrates abnormal hypointense T1 signal involving bilateral internal capsules and the white matter of all lobes of both cerebral hemispheres without cerebral parenchymal atrophy.
JCIS-9-45-g003.jpg
PMC6826334_01_JCIS-9-45-g003.jpg
F3
T2 hypointense signal within the anterolateral portions of both thalami [Figures 1-3]. These findings were concerning for a diffuse hypomyelinating process. There were no focal areas of restricted diffusion or abnormal enhancement [Figures 4 and 5]. The MRI images also demonstrated moderate cerebellar vermian and mild cerebellar hemispheric atrophy [Figures 6].
A 6 years old with Pol III-related leukodystrophy who presented with ataxic gait, delayed speech, difficulty with vertical gaze eye movements, and multiple unerupted primary incisor teeth. Magnetic resonance imaging of the brain with axial diffusion tensor image at the level of the third ventricle and internal capsule demonstrates no evidence of abnormal restricted diffusion.
JCIS-9-45-g004.jpg
PMC6826334_01_JCIS-9-45-g004.jpg
F4
T2 hypointense signal within the anterolateral portions of both thalami [Figures 1-3]. These findings were concerning for a diffuse hypomyelinating process. There were no focal areas of restricted diffusion or abnormal enhancement [Figures 4 and 5]. The MRI images also demonstrated moderate cerebellar vermian and mild cerebellar hemispheric atrophy [Figures 6].
A 6 years old with Pol III-related leukodystrophy who presented with ataxic gait, delayed speech, difficulty with vertical gaze eye movements, and multiple unerupted primary incisor teeth. Magnetic resonance imaging of the brain with post-contrast axial T1 image at the level of the third ventricle and internal capsule demonstrates no evidence of abnormal enhancement.
JCIS-9-45-g005.jpg
PMC6826334_01_JCIS-9-45-g005.jpg
F5
T2 hypointense signal within the anterolateral portions of both thalami [Figures 1-3]. These findings were concerning for a diffuse hypomyelinating process. There were no focal areas of restricted diffusion or abnormal enhancement [Figures 4 and 5]. The MRI images also demonstrated moderate cerebellar vermian and mild cerebellar hemispheric atrophy [Figures 6].
A 6 years old with Pol III-related leukodystrophy who presented with ataxic gait, delayed speech, difficulty with vertical gaze eye movements, and multiple unerupted primary incisor teeth. Sagittal magnetic resonance imaging image through the midline of the brain using non-contrast T1 imaging demonstrates moderate atrophy of the cerebellar vermis.
JCIS-9-45-g006.jpg
PMC6826334_01_JCIS-9-45-g006.jpg
F6
T2 hypointense signal within the anterolateral portions of both thalami [Figures 1-3]. These findings were concerning for a diffuse hypomyelinating process. There were no focal areas of restricted diffusion or abnormal enhancement [Figures 4 and 5]. The MRI images also demonstrated moderate cerebellar vermian and mild cerebellar hemispheric atrophy [Figures 6].