Résumé :
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Purpose: To study the ultrastructural changes of muscle in patients with cerebrotendinous xanthomatosis (CTX) and make a correlation with the Tc99m-sestamibi thighSPECT/CT images (a noninvasive tool for the evaluation of the mitochondrial status of the studied muscle).Material and Methods: Four biochemically and geneticallyconfirmed CTX patients were included for study. The four CTX patients belonged to two families (Cases I-1 and I-2 in Family I and Cases II-1 andII-2 in Family 2).They all had an elevated serum cholestanol level, ranged from 24.7 to 46.8 ug/ml (mean = 34.3 ug/ml, normal value = 3.37±1.55 ug/ml) and their genetic mutations ofCYP 27 gene were homozygous (305delC, exon 2) in Family I and heterozygous (1333C >T, exon 8 and IVS 7+1G>A, intron 7) in Family II. All four patients receivedneedle muscle biopsy for ultra-structural study. Cases I-1 and I-2 underwent Tc99m-sestamibi thigh SPECT/CT imaging study using both visual scoring from planarimages and automatic volumetric analysis visual scoring from planar images and automatic volumetric analysis to rate the Tc99m-sestamibi uptake level in order to makea correlation with the findings of myo-ultrastructural studies.Results: The four patients were one woman and three men, aged from 29 to 54 years old. The diseaseduration at this muscle study were 49 years (Case I-1), 45 years (Case I-2), 21 years (Case II-1) and 17 years (Case II-2). Their major ultrastructural features showed avariety of non-specific metabolic changes including lipid, membrane and mitochondria abnormalities. In Tc99m-sestamibi thigh SPECT/CT imaging study, visual scoringshowed a severe decrement in both cases and volumetric analysis showed a significant uptake decrement; uptake ratio (thigh to buttock soft tissue region) was 2.53 inCase I-1 and 2.03 in Case I-2 (< 2 SD of the control group, 6.41±1.6).Conclusions: In this study, we demonstrated a sustained defective metabolism in skeletal musclesshown by the findings of ultrastructural study. A defective mitochondrial status of muscles was also demonstrated by the significant Tc99m-sestamibi uptake decrementin SPECT/CT imaging study.
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