Role of brain magnetic resonance spectroscopy in the evaluation of suspected mitochondrial diseases in children: Experience in 30 pediatric cases

ElBeheiry, Ahmed A.; Abougabal, Ahmed Mohamed; Omar, Tarek; Etaby, Ashraf N.

doi:10.1016/j.ejrnm.2013.12.012

Cited by 7 publications

(5 citation statements)

References 16 publications

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“…Proton magnetic resonance spectroscopy ( 1 HMRS) is a specialised method to obtain information about the composition, concentration, and spatial distribution of specific biochemical components produced during metabolic processes in brain tissues [ 1 - 6 ].…”

Section: Introductionmentioning

confidence: 99%

Sex differences in brain metabolite concentrations in healthy children – proton magnetic resonance spectroscopy study (<sup>1 </sup>HMRS)

et al. 2018

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PurposeThe aim of this 1HMRS study was to define sex-related differences in metabolic spectrum between healthy children. Forty-nine girls and boys aged 6-15 years were examined.Material and methodsVolume of interest was located in seven brain regions: frontal lobes, basal ganglia, hippocampi, and cerebellum.ResultsStatistical analysis of the results showed significantly higher (p < 0.05) myo-inositol concentrations relative to the total concentrations in the boys than the girls, as well as higher absolute N-acetyl aspartate concentrations in the left frontal lobes in girls. No other significant differences were shown, except for trends in differences.ConclusionsIn clinical practice the diagnostic process first of all focuses on assessing concentrations of metabolites to relative cerebellum concentration. Thus, the findings of the present study allow the conclusion that when analysing the results of 1HMRS studies in children it is not necessary to take into account the child’s gender.

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Section: Introductionmentioning

confidence: 99%

Sex differences in brain metabolite concentrations in healthy children – proton magnetic resonance spectroscopy study (<sup>1 </sup>HMRS)

et al. 2018

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“…The detection of lactate levels utilizing magnetic resonance spectroscopy is not specific to mitochondrial disorders because increased CNS lactate levels have been associated with numerous pathological processes, including hypoxia, neoplasms, and inflammation. However, the detection of lactate levels represents a non-invasive, complementary approach, along with MRS imaging, that can be used to support a mitochondrial disease diagnosis in a patient with normal-appearing MRI examinations combined with non-specific MRI findings [100]. Biochemical screening outcomes can be associated with a diverse range of suspected candidate genes [101].…”

Section: Limitations Associated With Traditional Diagnostic Methodsmentioning

confidence: 99%

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders

Mahmud

Biswas

Afrose

et al. 2022

CIMB

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Mitochondria are major contributors to ATP synthesis, generating more than 90% of the total cellular energy production through oxidative phosphorylation (OXPHOS): metabolite oxidation, such as the β-oxidation of fatty acids, and the Krebs’s cycle. OXPHOS inadequacy due to large genetic lesions in mitochondrial as well as nuclear genes and homo- or heteroplasmic point mutations in mitochondrially encoded genes is a characteristic of heterogeneous, maternally inherited genetic disorders known as mitochondrial disorders that affect multisystemic tissues and organs with high energy requirements, resulting in various signs and symptoms. Several traditional diagnostic approaches, including magnetic resonance imaging of the brain, cardiac testing, biochemical screening, variable heteroplasmy genetic testing, identifying clinical features, and skeletal muscle biopsies, are associated with increased risks, high costs, a high degree of false-positive or false-negative results, or a lack of precision, which limits their diagnostic abilities for mitochondrial disorders. Variable heteroplasmy levels, mtDNA depletion, and the identification of pathogenic variants can be detected through genetic sequencing, including the gold standard Sanger sequencing. However, sequencing can be time consuming, and Sanger sequencing can result in the missed recognition of larger structural variations such as CNVs or copy-number variations. Although each sequencing method has its own limitations, genetic sequencing can be an alternative to traditional diagnostic methods. The ever-growing roster of possible mutations has led to the development of next-generation sequencing (NGS). The enhancement of NGS methods can offer a precise diagnosis of the mitochondrial disorder within a short period at a reasonable expense for both research and clinical applications.

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“…On the other hand, the absence of lactate cannot exclude a mitochondrial disorder. To help distinguish mitochondrial disorders from other entities, the authors suggest 1H-MRS voxel placement not only within the lesions or the lateral ventricles but also in areas in “normal-appearing” parenchyma, as large lactate peaks in these regions are compelling evidence of an underlying mitochondrial condition [ 17 ]. In addition to lactate, 1H-MRS can also detect other characteristic peaks, such as pyruvate (2.37 ppm) or succinate at (2.4 ppm), which can provide further insights into specific metabolic defects such as those associated with pyruvate and succinate dehydrogenase [ 18 ].…”

Section: Advanced Techniquesmentioning

confidence: 99%

Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders

Alves,

Whitehead

2024

Neurotherapeutics

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Role of brain magnetic resonance spectroscopy in the evaluation of suspected mitochondrial diseases in children: Experience in 30 pediatric cases

Cited by 7 publications

References 16 publications

Sex differences in brain metabolite concentrations in healthy children – proton magnetic resonance spectroscopy study (<sup>1 </sup>HMRS)

Sex differences in brain metabolite concentrations in healthy children – proton magnetic resonance spectroscopy study (<sup>1 </sup>HMRS)

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders

Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders

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