title: 99mTc-sestamibi thigh SPECT/CT imaging for assessment of myopathy in cerebrotendinous xanthomatosis with histopathological and immunohistochemical correlation.
abstract: OBJECTIVE
  The aim of this study was to determine the effectiveness of using Tc-sestamibi thigh SPECT/CT imaging for evaluating myopathy in cerebrotendinous xanthomatosis (CTX).
  
  
  METHODS
  Four genetically proven CTX patients (Family I, Cases I-1 and I-2; Family II, Cases II-1 and II-2) were included. They all underwent muscle biopsies for histopathologic and ultrastructural studies. Immunohistochemical staining for vinculin expression was also performed. Tc-sestamibi thigh SPECT/CT imaging was conducted on all 4 CTX patients, and both visual interpretation and muscle-to-background (M/B) ratio count were applied for assessment. Correlation analysis of the imaging findings and results of the ultrastructural and immunohistochemical studies was done.
  
  
  RESULTS
  In the Tc-sestamibi thigh SPECT/CT imaging study, all 4 CTX cases had abnormal scores of visual interpretation and M/B ratios. The ultrastructural features of the skeletal muscle of the 4 CTX cases showed mitochondrial and membrane system abnormalities, with increased depositions of metabolites. They also had abnormal increases in vinculin expression after immunohistochemical staining of the skeletal muscle.
  
  
  CONCLUSIONS
  This is the first report on the use of Tc-sestamibi thigh SPECT/CT imaging to assess the mitochondrial status of CTX. The imaging findings may have a correlation with the ultrastructural and immunohistochemical findings on skeletal muscle. Although the Tc-sestamibi thigh SPECT/CT imaging is not specific for CTX, this noninvasive in vivo assessment can be an important tool for the detection and follow-up study of skeletal muscle involvement in CTX.
authors.affiliation: From the Departments of *Neurology and †Nuclear Medicine, Chang Gung Memorial Hospital-Kaohsiung Medical Center and Chang Gung University College of Medicine, Kaohsiung; and ‡School of Traditional Chinese Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Shu-Fang
authors.initials: SF
authors.lastname: Chen
authors.forename: Chiung-Chih
authors.initials: CC
authors.lastname: Chang
authors.forename: Shu-Hua
authors.initials: SH
authors.lastname: Huang
authors.forename: Chen-Hisen
authors.initials: CH
authors.lastname: Lu
authors.forename: Yao-Chung
authors.initials: YC
authors.lastname: Chuang
authors.forename: Tai-Long
authors.initials: TL
authors.lastname: Pan
authors.forename: Wen-Neng
authors.initials: WN
authors.lastname: Chang
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging; D009135:Muscular Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D017256:Technetium Tc 99m Sestamibi; D013848:Thigh / Q000000981:diagnostic imaging / Q000473:pathology; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed; D019294:Xanthomatosis, Cerebrotendinous / Q000000981:diagnostic imaging* / Q000473:pathology*
chemical_list: D017256:Technetium Tc 99m Sestamibi