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Clinical Article
Diagnostic value of cerebrospinal fluid 1H-MRS for mitochondrial encephalopathy
ZHOU Zhi-ling  LU Jie-yan  XING Wu  HU Ping  LIAO Wei-hua 

DOI:10.12015/issn.1674-8034.2018.09.001.


[Abstract] Objective: To investigate the diagnostic value of cerebrospinal fluid 1H-MRS for mitochondrial encephalopathy and provide new clues and ideas for clinical diagnosis.Materials and Methods: Thirteen patients with mitochondrial encephalopathy (ME) and 17 patients with clinically suspected mitochondrial encephalopathy but ultimately diagnosed with non-mitochondrial disease were selected as control group. All patients underwent routine MRI and 1H-MRS examination. The Lac peak were compared between the two groups of patients respectively.Results: Cerebrospinal fluid 1H-MRS showed that 10 cases (10/13) of the cerebrospinal fluid area showed Lac peaks, 3 cases (3/17) of the control group showed Lac peaks in the cerebrospinal fluid area. 1H-MRS showed 5 cases (5/12) Lac peaks were observed in the lesion area of ME. Elevated Lac peaks were observed in the lesion area of the control group in 6 cases (6/16). The sensitivity, correct index, positive likelihood ratio, negative likelihood ratio, and coincidence rate of lac peak in the diagnosis of mitochondrial encephalopathy in the 1H-MRS in cerebrospinal fluid region were better than those in lesion area. Analysis of 1H-MRS diagnosis of mitochondrial encephalopathy combined with cerebrospinal fluid area and lesion area showed that compared with 1H-MRS results of cerebrospinal fluid alone, the sensitivity of the tandem test was reduced, and the specificity was increased. The correct index and coincidence rate of serial and parallel tests were lower than those in the cerebrospinal fluid region.Conclusions: The appearance of Lac peak in cerebrospinal fluid 1H-MRS is superior to that in brain lesion area, which contributes to the lactate level detection in cerebrospinal fluid.
[Keywords] Mitochondrial diseases;Brain diseases;Magnetic resonance spectroscopy

ZHOU Zhi-ling Department of Radiology, Xiangya Hospital Central South University, Changsha 410005, China

LU Jie-yan Department of Radiology, Xiangya Hospital Central South University, Changsha 410005, China

XING Wu Department of Radiology, Xiangya Hospital Central South University, Changsha 410005, China

HU Ping Department of Radiology, Xiangya Hospital Central South University, Changsha 410005, China

LIAO Wei-hua* Department of Radiology, Xiangya Hospital Central South University, Changsha 410005, China

*Correspondence to: Liao WH, E-mail: ouwenliao@163.com

Conflicts of interest   None.

ACKNOWLEDGMENTS  This article was funded by the National Natural Science Foundation of China No. 81671676
Received  2018-03-08
Accepted  2018-03-24
DOI: 10.12015/issn.1674-8034.2018.09.001
DOI:10.12015/issn.1674-8034.2018.09.001.

[1]
Mordekar SR, Guthrie P, Bonham JR, et al. The significance of reduced respiratory chain enzyme activities: clinical, biochemical and radiological associations. Eur J Paediatr Neurol, 2006, 10(2): 78-82.
[2]
Gropman AL. The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations. Mitochondrion, 2004, 4(5-6): 503-520.
[3]
Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand, 2006, 114(4): 217-238.
[4]
Chaturvedi S, Bala K, Thakur R, et al. Mitochondrial encephalomyopathies: advances in understanding. Med Sci Monit, 2005, 11(7): RA238-246.
[5]
Bianchi MC, Sgandurra G, Tosetti M, et al. Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies. Biosci Rep, 2007, 27(1-3): 69-85.
[6]
汤群锋,吴力源,陈宏伟,等.脑后部可逆性脑病综合征与MELAS的磁共振特征对照研究.磁共振成像, 2012, 3(1): 24-29.
[7]
van der Voorn JP, Pouwels PJ, Hart AA, et al. Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology, 2006, 241(2): 510-517.
[8]
Cross JH, Gadian DG, Connelly A, et al. Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders. J Inherit Metab Dis, 1993, 16(4): 800-811.
[9]
Morava E, van den Heuvel L, Hol F, et al. Mitochondrial disease criteria: diagnostic applications in children. Neurology, 2006, 67(10): 1823-1826.
[10]
Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand, 2006, 114(4): 217-238.
[11]
Arii J, Tanabe Y. Leigh syndrome: serial MR imaging and clinical follow-up. AJNR Am J Neuroradiol, 2000, 21(8): 1502-1509.
[12]
Farina L, Chiapparini L, Uziel G, et al. MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol, 2002, 23(7): 1095-1100.
[13]
Moroni I, Bugiani M, Bizzi A, et al. Cerebral white matter involvement in children with mitochondrial encephalopathies. Neuropediatrics, 2002, 33(2): 79-85.
[14]
Barragán-Campos HM, Vallée JN, Lô D, et al. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol, 2005, 62(5): 737-742.
[15]
Du Y1, Li Y, Lan Q. Clinical proton MR spectroscopy in central nervous system disorders. Radiology, 2014, 270(3): 658-679.
[16]
Lin DD, Crawford TO, Barker PB. Crawford and P.B. Barker, Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. AJNR Am J Neuroradiol, 2003, 24(1): 33-41.
[17]
Regenold WT, Phatak P, Marano CM, et al. Elevated cerebrospinal fluid lactate concentrations in patients with bipolar disorder and schizophrenia: implications for the mitochondrial dysfunction hypothesis. Biol Psychiatry, 2009, 65(6): 489-494.
[18]
郑阳,王晓明.新生猪缺氧缺血脑损伤后基底节乳酸代谢及其转运体表达的研究.磁共振成像, 2017. 8(1): 45-50.
[19]
Chi CS, Lee HF, Tsai CR, et al. Lactate peak on brain MRS in children with syndromic mitochondrial diseases. J Chin Med Assoc, 2011, 74(7): 305-309.
[20]
Rigotti DJ, Inglese M, Gonen O. Whole-brain N-acetylaspartate as a surrogate marker of neuronal damage in diffuse neurologic disorders. AJNR Am J Neuroradiol, 2007, 28(10): 1843-1849.
[21]
Licata SC, Renshaw PF. Neurochemistry of drug action: insights from proton magnetic resonance spectroscopic imaging and their relevance to addiction. Ann N Y Acad Sci, 2010, 1187: 148-171.
[22]
Govind V, Young K, Maudsley AA. Corrigendum: proton NMR chemical shifts and coupling constants for brain metabolites. NMR Biomed, 2015, 28(7):923-924.
[23]
Luo Y, de Graaf RA, DelaBarre L, et al. BISTRO: an outer-volume suppression method that tolerates RF field inhomogeneity. Magn Reson Med, 2001, 45(6): 1095-1102.
[24]
Hofmann L, Slotboom J, Jung B, et al. Quantitative 1H-magnetic resonance spectroscopy of human brain: Influence of composition and parameterization of the basis set in linear combination model-fitting. Magn Reson Med, 2002, 48(3): 440-453.
[25]
Oz G, Tkác I, Charnas LR, et al. Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients. Neurology, 2005, 64(3): 434-441.
[26]
Howe FA, Barton SJ, Cudlip SA, et al. Metabolic profiles of human brain tumors using quantitative in vivo 1H magnetic resonance spectroscopy. Magn Reson Med, 2003. 49(2): 223-232.
[27]
Gupta RK, Jobanputra KJ, Yadav A. MR spectroscopy in brain infections. Neuroimaging Clin N Am, 2013, 23(3): 475-498.
[28]
Oz G, Alger JR, Barker PB, et al. Clinical proton MR spectroscopy in central nervous system disorders. Radiology, 2014, 270(3): 658-679.
[29]
Zanigni S, Terlizzi R, Tonon C, et al. Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy. Brain Res Bull, 2015, 117: 24-31.
[30]
Shungu DC, Weiduschat N, Murrough JW, et al. Increased ventricular lactate in chronic fatigue syndrome. III. Relationships to cortical glutathione and clinical symptoms implicate oxidative stress in disorder pathophysiology. NMR Biomed, 2012, 25(9): 1073-1087.
[31]
Inao S, Marmarou A, Clarke GD, et al. Production and clearance of lactate from brain tissue, cerebrospinal fluid, and serum following experimental brain injury. J Neurosurg, 1988, 69(5): 736-744.
[32]
Regenold WT, Phatak P, Marano CM, et al. Elevated cerebrospinal fluid lactate concentrations in patients with bipolar disorder and schizophrenia: implications for the mitochondrial dysfunction hypothesis. Biol Psychiatry, 2009, 65(6): 489-494.

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