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case_images: Abdominal CT shows a large tumor at pelvic cavity
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case_images: His tumor was about 20 cm in diameter and invaded the urinary bladder and sigmoid colon (Figure 1).
case_images: EEG findings show continuous, diffuse theta and delta with slowing of background activity and poorly regulated posterior dominant rhythm
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case_images: Electroencephalography (EEG) showed moderate, diffuse cerebral dysfunction (Figure 2).
case_images: 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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case_images: T1WI, hypertensive lesion was developed in bilateral basal ganglia (Figure 3). These findings were compatible with multifocal leukoencephalopathy.
case_images: 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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case_images: Therefore, as shown in Figure 4, this patient had a wild-type pattern.