Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

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Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders. / Lunsing, Roelineke J.; Strating, Kim; de Koning, Tom J.; Sijens, Paul E.

In: European Radiology, Vol. 27, No. 3, 01.03.2017, p. 976-984.

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T1 - Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

AU - Lunsing, Roelineke J.

AU - Strating, Kim

AU - de Koning, Tom J.

AU - Sijens, Paul E.

PY - 2017/3/1

Y1 - 2017/3/1

N2 - Objectives: Magnetic resonance spectroscopy (MRS) of children with or without neurometabolic disease is used for the first time for quantitative assessment of brain tissue lactate signals, to elaborate on previous suggestions of MRS-detected lactate as a marker of mitochondrial disease. Methods: Multivoxel MRS of a transverse plane of brain tissue cranial to the ventricles was performed in 88 children suspected of having neurometabolic disease, divided into ‘definite’ (n = 17, ≥1 major criteria), ‘probable’ (n = 10, ≥2 minor criteria), ‘possible’ (n = 17, 1 minor criterion) and ‘unlikely’ mitochondrial disease (n = 44, none of the criteria). Lactate levels, expressed in standardized arbitrary units or relative to creatine, were derived from summed signals from all voxels. Ten ‘unlikely’ children with a normal neurological exam served as the MRS reference subgroup. For 61 of 88 children, CSF lactate values were obtained. Results: MRS lactate level (>12 arbitrary units) and the lactate-to-creatine ratio (L/Cr >0.22) differed significantly between the definite and the unlikely group (p = 0.015 and p = 0.001, respectively). MRS L/Cr also differentiated between the probable and the MRS reference subgroup (p = 0.03). No significant group differences were found for CSF lactate. Conclusion: MRS-quantified brain tissue lactate levels can serve as diagnostic marker for identifying mitochondrial disease in children. Key points: • MRS-detected brain tissue lactate levels can be quantified. • MRS lactate and lactate/Cr are increased in children with mitochondrial disease. • CSF lactate is less suitable as marker of mitochondrial disease.

AB - Objectives: Magnetic resonance spectroscopy (MRS) of children with or without neurometabolic disease is used for the first time for quantitative assessment of brain tissue lactate signals, to elaborate on previous suggestions of MRS-detected lactate as a marker of mitochondrial disease. Methods: Multivoxel MRS of a transverse plane of brain tissue cranial to the ventricles was performed in 88 children suspected of having neurometabolic disease, divided into ‘definite’ (n = 17, ≥1 major criteria), ‘probable’ (n = 10, ≥2 minor criteria), ‘possible’ (n = 17, 1 minor criterion) and ‘unlikely’ mitochondrial disease (n = 44, none of the criteria). Lactate levels, expressed in standardized arbitrary units or relative to creatine, were derived from summed signals from all voxels. Ten ‘unlikely’ children with a normal neurological exam served as the MRS reference subgroup. For 61 of 88 children, CSF lactate values were obtained. Results: MRS lactate level (>12 arbitrary units) and the lactate-to-creatine ratio (L/Cr >0.22) differed significantly between the definite and the unlikely group (p = 0.015 and p = 0.001, respectively). MRS L/Cr also differentiated between the probable and the MRS reference subgroup (p = 0.03). No significant group differences were found for CSF lactate. Conclusion: MRS-quantified brain tissue lactate levels can serve as diagnostic marker for identifying mitochondrial disease in children. Key points: • MRS-detected brain tissue lactate levels can be quantified. • MRS lactate and lactate/Cr are increased in children with mitochondrial disease. • CSF lactate is less suitable as marker of mitochondrial disease.

KW - Cerebrospinal fluid

KW - Lactate

KW - Magnetic resonance

KW - Mitochondri

KW - MR spectroscopy

UR - http://www.scopus.com/inward/record.url?scp=84976307726&partnerID=8YFLogxK

U2 - 10.1007/s00330-016-4454-8

DO - 10.1007/s00330-016-4454-8

M3 - Article

C2 - 27271921

AN - SCOPUS:84976307726

VL - 27

SP - 976

EP - 984

JO - European Radiology

JF - European Radiology

SN - 0938-7994

IS - 3

ER -