PMC5050589_01
Anterior view of patient s face and body
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PMC5050589_01_13039_2016_278_Fig1_HTML.jpg
Fig1
A 4-year-old male proband (Figs. 1, 2, 3) presented with global developmental delay noticed by his family when he was around 11 months of age.
Lateral view of patient s face and body
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PMC5050589_01_13039_2016_278_Fig2_HTML.jpg
Fig2
A 4-year-old male proband (Figs. 1, 2, 3) presented with global developmental delay noticed by his family when he was around 11 months of age.
Anterior view of patient s face and body
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PMC5050589_01_13039_2016_278_Fig3_HTML.jpg
Fig3
A 4-year-old male proband (Figs. 1, 2, 3) presented with global developmental delay noticed by his family when he was around 11 months of age.
PMC5050589_02
Brain MRI - Increased signal in T2-weighted images in the withe matter territories adjacent to the lateral ventricles bodies and subcortical zone
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PMC5050589_02_13039_2016_278_Fig4_HTML.jpg
Fig4
However, we identified sparse increased signal in FLAIR and T2-weighted images in the white matter territories adjacent to the lateral ventricles bodies and subcortical zones (Figs. 4, 5, 6, 7).
Brain MRI - Increased signal in FLAIR images in the withe matter territories adjacent to the lateral ventricles bodies and subcortical zone
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PMC5050589_02_13039_2016_278_Fig5_HTML.jpg
Fig5
However, we identified sparse increased signal in FLAIR and T2-weighted images in the white matter territories adjacent to the lateral ventricles bodies and subcortical zones (Figs. 4, 5, 6, 7).
Brain MRI - Increased signal in FLAIR images in the withe matter territories adjacent to the lateral ventricles bodies and subcortical zone
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PMC5050589_02_13039_2016_278_Fig6_HTML.jpg
Fig6
However, we identified sparse increased signal in FLAIR and T2-weighted images in the white matter territories adjacent to the lateral ventricles bodies and subcortical zones (Figs. 4, 5, 6, 7).
Brain MRI - Increased signal in FLAIR images in the withe matter territories adjacent to the lateral ventricles bodies and subcortical zone
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PMC5050589_02_13039_2016_278_Fig7_HTML.jpg
Fig7
However, we identified sparse increased signal in FLAIR and T2-weighted images in the white matter territories adjacent to the lateral ventricles bodies and subcortical zones (Figs. 4, 5, 6, 7).
EEG showing non specific slow background activity, as well as no epileptiform discharges
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PMC5050589_02_13039_2016_278_Fig8_HTML.jpg
Fig8
In addition, around the same period of time, a v-EEG demonstrated signs of a non-specific slow background, but no other abnormal electrographic activity had been identified (Fig. 8).     