PMC4531646_01
Abdominal CT shows a large tumor at pelvic cavity
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His tumor was about 20 cm in diameter and invaded the urinary bladder and sigmoid colon (Figure 1).
EEG findings show continuous, diffuse theta and delta with slowing of background activity and poorly regulated posterior dominant rhythm
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Electroencephalography (EEG) showed moderate, diffuse cerebral dysfunction (Figure 2).
Brain magnetic resonance imaging (unenhancing) shows hyperintensive lesions in bilateral cerebellar hemispheres (a1, arrow), thalami and midbrain (a2, arrow) on T2WI without mass effect
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T1WI, hypertensive lesion was developed in bilateral basal ganglia (Figure 3). These findings were compatible with multifocal leukoencephalopathy.
PCR genotyping assay to detect GT to AT mutation. Wide-type DPYP allele gives fragments of 278 and 131 bp bands, whereas the mutant allele gives a unique 409 bp band after Mae II restricition. Lanes 1 and 2 correspond to homozygote mutant and wild-type (patient), respectively. M is 1-kb DNA ladder size markers.
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Therefore, as shown in Figure 4, this patient had a wild-type pattern.