PMC4780271_01
Rocker bottom foot, valgus and equinus deformity of the foot is demonstrated.
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Ichthyosis of the skin, rocker bottom foot, valgus and equinus deformity of the foot (Figure 1), and hepatomegaly were present.
First MR examination at the age of 10 months demonstrates bilateral symmetric thalamic T1 hyperintensities on image (A) and T2 hypointensities on image (B) (arrows). Also delayed myelination and mild T2 signal increase in frontoparietal white matter are seen on image (B). Corpus callosum is spared.
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First brain MR imaging without contrast medium injection was performed at the age of 10 months and it showed increased T1 signal of bilateral thalamus and delayed myelination (Figure 2).
Axial T2-weighted images in (A-C) and d reveal diffuse, symmetrical hyperintensity in the periventricular, deep, and subcortical white matter, dorsal thalami (A), the external (thick arrow) and extreme capsules, and cerebellar white matter Short T2 relaxation time is seen in the ventral thalamic nucleus, resulting in hypointensity. Right caudate nuclei and bilateral putamen appear swollen, and show hyperintense appearance (thin arrow). On image (D, E), hyperintense thalami (arrowhead) and an intact thin corpus callosum can be seen.
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Slight cortical atrophy and a thin corpus callosum with normal signal intensity were noted (Figure 3).