PMC6334619_01
PMC6334619_02
Results of molecular imaging studies. Transaxial [18F]FDG-PET images (A) showed not only a mild bilateral mesiotemporal hypometabolism (in line with mesiotemporal seizure origin) but also a marked striatal hypometabolism that was found to be highly significant compared to healthy controls [(B); results of a statistical parametric mapping analysis comparing the patient's scan to those of 10 age-matched healthy controls; clusters of voxels with significant hypometabolism (voxel threshold: p < 0.001, cluster extent threshold k > 20 voxels) are color-coded as Z score and overlaid onto the spatially-normalized MRI scan of the patient]. An additional [123I]FP-CIT-SPECT examination (C) also revealed a moderate loss of striatal dopamine transporters, witnessing a decline of nigrostriatal integrity (an age-matched healthy control is shown for comparison; DVR, distribution volume ratio).
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F1
At the age of 31 seizures were not entirely suppressed, as part of further diagnostics of temporal lobe epilepsy, the patient underwent a [18F]FDG-PET (Figure 1) which showed a bilateral mesiotemporal hypometabolism, in line with the mesiotemporal seizure origin. A [123I]FP-CIT-SPECT was performed which yielded a moderately bilateral loss of striatal dopamine transporter availability, in line with a decline of nigrostriatal integrity (Figure 1).
Clinical and diagnostic course of the index patient.
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F2
Consequently, an extensive follow-up evaluation was initiated (see Figure 2).
MRI [coronal reformation of a MPRAGE sequence, (A); coronal FLAIR sequence, (B); z-score map of a combined voxel and region based (CVR) analysis, (C)] shows discrete bilateral caudate head atrophy [(A): arrows] and a smaller and hyperintense right-sided hippocampus indicating right-sided hippocampal sclerosis [(B): hollow arrow]. The left hippocampus is somewhat hyperintense but not atrophic. Bilateral caudate head atrophy is confirmed with CVR analysis, in which blue colors show decreased gray and red colors increased cerebrospinal fluid volume, respectively (C).
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F3
A high-resolution MRI now presented bilateral atrophy of the nucleus caudatus (Figure 3).
Pedigree of the affected family, with age of first epileptic seizure in years (y). Arrow: index patent. Asterisk: genetic testing performed. Aa, heterozygous; aa, homozygous for c.4326 T>A (p.Tyr1442*).
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F4
Of his six siblings, two (between the ages of 20-30 years) had by now also suffered from general seizures (see Figure 4).
PMC6334619_03
PMC6334619_04