PMC5820819_01
Axial T2-weighted MR images: (a) Symmetrical hyperintense signal in ventral pons (arrows). Note absence of signal abnormality in middle cerebellar peduncles and cerebellar hemisphere; (b) hyperintense signals in bilateral cerebral peduncles (arrows); (c) patchy signal abnormality in posterior limb of left internal capsule (arrow)
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F2
T2 hyperintense signal abnormalities involving corticospinal tracts in the ventral pons, cerebral peduncles, sublentiform region, and posterior limb of the left internal capsule [Figure 2a, b and c]. The second MRI (performed 3 months before admission to our hospital) revealed a new lesion in the posterior limb of the right internal capsule [Figure 3a] and increase in the extent and signal intensity of the corticospinal tract lesions over the ensuing 5 months [Figure 3b].
Axial T2-weighted MR images: (a) A mildly increased hyperintense signal in ventral pons (arrows) as compared to Figure 2a. Also note bilateral cerebellar atrophy. (b) Atrophy of midbrain. (c) Bilateral hyperintense signal in posterior limb of internal capsule (arrows), left side more involved than the right
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F3
T2 hyperintense signal abnormalities involving corticospinal tracts in the ventral pons, cerebral peduncles, sublentiform region, and posterior limb of the left internal capsule [Figure 2a, b and c]. The second MRI (performed 3 months before admission to our hospital) revealed a new lesion in the posterior limb of the right internal capsule [Figure 3a] and increase in the extent and signal intensity of the corticospinal tract lesions over the ensuing 5 months [Figure 3b]. Generalized corticocerebral, cerebellar, and brain stem atrophy was also evident [Figure 3c].
Axial T2-weighted images: (a) Hyperintense signal in bilateral middle cerebellar peduncles (arrows) and right cerebellar hemisphere (curved arrow). (b) Sagittal image showing abnormal hyperintense signals in the ventral pons and splenium of the corpus callosum (arrow). (c) Postcontrast image showing subtle enhancement at the level of the midbrain in the right cerebral peduncle (arrow). (d) Minimal enhancement is also seen in the posterior limb of the left internal capsule
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F4
MRI brain with intravenous gadolinium administration performed after admission to our hospital revealed further progression with extensive posterior fossa involvement: new lesions were detected in bilateral middle cerebellar peduncles, cerebellar hemisphere, and splenium of corpus callosum [Figure 4a and b]; lesions in the pons and midbrain were coalescent and minimal patchy enhancement was seen in the posterior limb of the left internal capsule and in the right cerebral peduncle after gadolinium administration [Figure 4c and d].
Electropherogram showing the mutated sequence profile detected in the patient. The red letters display respective nucleotide bases being incorporated to create the frame shift mutation starting at cDNA position 257 and resulting in a duplication of respective amino acids c.257_268dup, p.Val86_Arg89dup. The green bar displays the reference sequence and corresponding coding amino acid triplets. The mutation resulted in replacement of amino acid glutamic acid (represented by the letter E in the reference sequence) [open arrow] by Valine (represented by letter V) [solid arrow]
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F5
Val86_Arg89dup) [Figure 5].