Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy |
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| Affiliation: | 1. Department of Radiology, School of Medicine, University of Tokushima Kuramoto-cho, 3-18-15, Tokushima, Japan;2. Department of Pediatrics, School of Medicine, University of Tokushima Kuramoto-cho, 3-18-15, Tokushima, Japan;3. Department of Radiological Technology, School of Medical Science, University of Tokushima Kuramoto-cho, 3-18-15, Tokushima, Japan;1. School of Physics and Optoelectronic Engineering, Yangtze University, Jingzhou 434023, PR China;2. Neonatal Screening Center, Shanghai Children''s Hospital, Shanghai Jiao Tong University, Shanghai 200040, PR China;3. Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen 529000, PR China;4. Genetic Department, Yuncheng Maternal and Child Health Hospital, Yuncheng 044000, PR China;5. Department of Pediatric, University of Chinese Academy of Sciences-Shenzhen Hospital, Shenzhen 518000, PR China;6. Shenzhen Aone Medical Laboratory Co Ltd, Shenzhen 518000, PR China;7. College of Material and Chemical Engineering, Tongren University, Tongren 554300, PR China;8. State Key Laboratory of Chemo/Biosensing and Chemometrics, College of Chemistry and Chemical Engineering, Hunan University, Changsha 410082, PR China;1. Department of Organic Chemistry, Technological Faculty, University of Food Technologies, 26 Maritza Blvd., Plovdiv 4002, Bulgaria;2. Laboratory of Biologically Active Substances, Institute of Organic Chemistry with Centre of Phytochemistry, Bulgarian Academy of Sciences,139 Ruski Blvd, Plovdiv 4000, Bulgaria;3. Department of Physics, Technical Faculty, University of Food Technologies,26 Maritza Blvd., Plovdiv 4002, Bulgaria;4. Department of Canning Technology, Technological Faculty, University of Food Technologies,26 Maritza Blvd., Plovdiv 4002, Bulgaria;5. Department of Heating Technology, Technical Faculty, University of Food Technologies,26 Maritza Blvd., Plovdiv 4002, Bulgaria;1. Institute of Nutrition Science, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai 200031, China;2. Eastern Hepatobiliary Surgery Hospital, Second Military Medical University, 225 Changhai Road, Shanghai 200438, China;3. Department of Pharmacology and Cancer Biology, Duke University Medical Center, Durham, NC, USA;4. Cancer Science Institute of Singapore, National University of Singapore, 14 Medical Drive, 12-01, Singapore 117599, Singapore;5. Cedars-Sinai Medical Center, Division of Hematology/Oncology, UCLA School of Medicine, Los Angeles, CA 90048, USA;6. State Key Laboratory of Molecular Biology, Chinese Academy of Sciences, 320 Yue-yang Road, Shanghai 200031, China;7. Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, MN 55455, USA;8. Department of Nutrition, School of Public Health, Zhejiang University, Hangzhou, Zhejiang 310058, PR China;9. Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai 201102, PR China |
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| Abstract: | We experienced a case of pyruvate dehydrogenase deficiency observed by proton magnetic resonance spectroscopy(1H MRS). This case was diagnosed as West syndrome by characteristic convulsion and the periodic hypsarrhythmia pattern of EEG. At the age of 11 months, the first examination of 1H MRS revealed a high peak of lactate, and the high concentration of lactate and pyruvate was confirmed in sampled cerebrospinal fluid (CSF). Deficiency of pyruvate dehydrogenase complex was finally diagnosed by genetic examination. Dichloroacetate was administered to the patient as therapy. Decrease of lactate in the brain was found by 1H MRS. Lactate and pyruvate in the CSF was also decreased. In accordance with the suspension of dichloroacetate, increase of lactate in the brain was detected and the convulsions reappeared. After readministration of dichloroacetate, the patient was almost symptom free and lactate in the brain and CSF had decreased to the normal extent. We considered that 1H MRS provides useful information for screening metabolic disorders of infants and assessing the efficacy of therapy. |
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