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.
Clin Nucl Med. 2014 Mar;39(3):e202-7. doi: 10.1097/RLU.0b013e3182a20d8e.
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).
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.
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.
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.
本研究旨在确定使用 Tc- sestamibi 大腿 SPECT/CT 成像评估脑腱黄瘤病（CTX）肌病的有效性。
纳入 4 名经基因证实的 CTX 患者（家系 I，病例 I-1 和 I-2；家系 II，病例 II-1 和 II-2）。他们均接受肌肉活检进行组织病理学和超微结构研究。还进行了 vinculin 表达的免疫组织化学染色。对所有 4 名 CTX 患者进行 Tc- sestamibi 大腿 SPECT/CT 成像，同时进行视觉解释和肌肉与背景（M/B）比值计数评估。对成像结果与超微结构和免疫组织化学研究结果进行相关性分析。
在 Tc- sestamibi 大腿 SPECT/CT 成像研究中，4 例 CTX 患者均有异常的视觉解释和 M/B 比值评分。4 例 CTX 患者骨骼肌的超微结构特征显示线粒体和膜系统异常，代谢物沉积增加。骨骼肌免疫组织化学染色后，vinculin 表达也异常增加。
这是首次报道使用 Tc- sestamibi 大腿 SPECT/CT 成像评估 CTX 的线粒体状态。成像结果可能与骨骼肌的超微结构和免疫组织化学发现有关。尽管 Tc- sestamibi 大腿 SPECT/CT 成像对 CTX 不具有特异性，但这种非侵入性的体内评估可以成为检测和随访 CTX 骨骼肌受累的重要工具。
