1. Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome
- Author
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Yu Okai, Yoko Sakaguchi, Hiroyuki Kidokoro, Ayako Hattori, Hiroyuki Yamamoto, Atsuko Ohno, Yuji Ito, Naoko Ishihara, Masaharu Tanaka, Katsuhiko Kato, Tomoya Takeuchi, Tomohiko Nakata, Yoshiteru Azuma, Jun Natsume, and Shin Nabatame
- Subjects
Male ,Deficiency syndrome ,Adolescent ,Monosaccharide Transport Proteins ,Statistical parametric mapping ,Young Adult ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Thalamus ,Developmental Neuroscience ,Fluorodeoxyglucose F18 ,Humans ,Medicine ,Child ,Cerebral Cortex ,Fluorodeoxyglucose ,Glucose Transporter Type 1 ,medicine.diagnostic_test ,business.industry ,Brain ,General Medicine ,medicine.disease ,Corpus Striatum ,medicine.anatomical_structure ,Cerebral cortex ,Positron emission tomography ,Child, Preschool ,Positron-Emission Tomography ,Pediatrics, Perinatology and Child Health ,Etiology ,Female ,Neurology (clinical) ,Radiopharmaceuticals ,Differential diagnosis ,business ,Nuclear medicine ,030217 neurology & neurosurgery ,Carbohydrate Metabolism, Inborn Errors ,medicine.drug - Abstract
Purpose To establish an objective method of [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET) that can assist in the diagnosis of glucose transporter 1 deficiency syndrome (GLUT1-DS). Methods FDG-PET was performed in 8 patients with a mean age of 12.5 years (range, 2–22 years) with GLUT1-DS. Their PET findings were compared with those of 45 controls with a mean age of 11.2 years (range, 2–21 years) by statistical parametric mapping (SPM12, Welcome Neurological Institute). The controls had epilepsy of unknown etiology and normal MRI findings. The age-adjusted ratios of mean radioactivities in regions of interest (ROIs) of bilateral lenticular nuclei, thalami, and the whole cerebral cortex were also measured. The sensitivities and specificities of the ratios for the differential diagnosis of GLUT1-DS were also determined. Results SPM showed significantly decreased uptake in bilateral thalami and increased uptake in bilateral lenticular nuclei in patients with GLUT1-DS. There were no areas in the cerebral cortex with significant differences between patients and controls. On ROI analysis, by setting the cut-off value of the age-adjusted lenticular nuclei/thalami radioactivity ratio to 1.54, patients with GLUT1-DS were differentiated from controls with sensitivity of 1.00 and specificity of 0.98. Conclusion The age-adjusted lenticular nuclei/thalami radioactivity ratio on PET can distinguish patients with GLUT1-DS from patients with epilepsy of unknown etiology with high sensitivity and specificity. It is important to pay attention to the metabolism of the lenticular nuclei and thalami on PET for the diagnosis of GLUT1-DS.
- Published
- 2021