Clinical 1H MRS in childhood neurometabolic diseases—part 1: technique and age-related normal spectra

Whitehead, Matthew T.; Lai, Liangzhen; Blüml, Stefan

doi:10.1007/s00234-022-02917-w

Cited by 9 publications

(12 citation statements)

References 25 publications

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“…DTI can indirectly evaluate the integrity of cerebral white matter fibers, and FA value reflects axonal and myelin injury (Hao et al, 2022;Tae et al, 2018). MRS can perform noninvasive detection of brain chemicals, and NAA is an indicator to mark the viability and density of neurons and axons (Igarashi et al, 2021;Whitehead et al, 2022). SWI, DTI, and MRS can be combined to classify the brain stages of WD patients (Zhou et al, 2021) In order to observe the response of WD patients to drug therapy, copper excretion treatment was reconducted for 6 months.…”

Section: Discussionmentioning

confidence: 99%

Symptom aggravation after withdrawal of metal chelating agent therapy in patients with Wilson's disease

et al. 2023

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ObjectiveTo study the aggravation of clinical symptoms after discontinuation of metal chelating agent therapy in Wilson's disease (WD) patients, analyze the causes of aggravation, and observe the prognosis.Methods40 WD patients (cerebral type 30 cases and hepatic type 10 cases) who stopped using metal chelating agent were selected, 40 WD patients with normal therapy, and 10 normal control cases were selected. All patients underwent neurological symptom evaluation using modified Young scale, Child‐Pugh liver function grading, metal metabolism, and disease typing. Magnetic sensitivity imaging (SWI), diffusion tensor imaging (DTI), and magnetic resonance spectroscopy imaging (MRS) were performed. According to the imaging results, WD patients were divided into metal deposition stage, fiber damage stage, and neuron necrosis stage. All patients were treated with metal chelating agent for 6 months.ResultsThe score of modified Young scale in drug withdrawal group was lower than that in normal treatment group before drug withdrawal (p = .032). The score of modified Young scale was higher after drug withdrawal than before (p = .011). The number of Child‐Pugh B‐grade patients after drug withdrawal was more than that before drug withdrawal and in normal treatment group. The proportion of patients in the stage of neuronal necrosis after drug withdrawal (25%) was higher than that before drug withdrawal (10%) (p = .025). After drug withdrawal, urine copper was significantly higher than that before drug withdrawal and in the normal treatment group (p = .032, .039). After the withdrawal group resumed metal chelating agent treatment, 34.2% of neurological symptoms worsened.ConclusionsWD patients showed neurological symptoms aggravation and increased liver injury after metal chelating agent withdrawal. Increased metal deposition and new nerve injury occurred in the brain. After re‐treatment, the aggravated neurological symptoms of WD patients are difficult to reverse.

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Section: Discussionmentioning

confidence: 99%

Symptom aggravation after withdrawal of metal chelating agent therapy in patients with Wilson's disease

et al. 2023

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“…Single-voxel 1 H-MRS is commonly recommended for most disorders, particularly pediatric neurometabolic disorders, as it offers high SNR and the capacity to identify various metabolites [ 5 , 6 ]. VOI localization methods include sequences, such as point-resolved spectroscopy (PRESS) and stimulated echo acquisition mode (STEAM), with PRESS being more widely used because its SNR is twice as high as that of STEAM [ 7 ].…”

Section: Technique and Basic Methods Of 1 H-mrs Fo...mentioning

confidence: 99%

“…If feasible, the incorporation of longer TE acquisition should be considered for the assessment of Lac and metabolites with relatively longer T2. To avoid signal loss resulting from insufficient longitudinal relaxation, the TR should be set to 2000 ms for 3-T and 1500 ms for 1.5-T or greater [ 6 , 7 ].…”

Section: Technique and Basic Methods Of 1 H-mrs Fo...mentioning

confidence: 99%

Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies

et al. 2023

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Although there are many types of inborn errors of metabolism (IEMs) affecting the central nervous system, also referred to as neurometabolic disorders, individual cases are rare, and their diagnosis is often challenging. However, early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurological impairment or death. The clinical course of IEMs is very diverse, with some diseases progressing to acute encephalopathy following infection or fasting while others lead to subacute or slowly progressive encephalopathy. The diagnosis of IEMs relies on biochemical and genetic tests, but neuroimaging studies also provide important clues to the correct diagnosis and enable the conditions to be distinguished from other, more common causes of encephalopathy, such as hypoxia–ischemia. Proton magnetic resonance spectroscopy (1H-MRS) is a powerful, non-invasive method of assessing neurological abnormalities at the microscopic level and can measure in vivo brain metabolites. The present review discusses neuroimaging findings, including those of 1H-MRS, of IEMs focusing on intoxication disorders such as urea cycle disorders, aminoacidopathies, and organic acidopathies, which can result in acute life-threatening metabolic decompensation or crisis.

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“…1H-MR Spectroscopy represents a valuable tool in the diagnosis of diverse brain diseases, including neurometabolic disorders [ 15 ]. When considering the diagnosis of mitochondrial disorders, the importance of 1H MRS becomes even more evident due to the common occurrence of severe cellular anaerobiosis, which is reflected in increased lactate levels.…”

Section: Advanced Techniquesmentioning

confidence: 99%

Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders

Alves,

Whitehead

2024

Neurotherapeutics

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Clinical 1H MRS in childhood neurometabolic diseases—part 1: technique and age-related normal spectra

Cited by 9 publications

References 25 publications

Symptom aggravation after withdrawal of metal chelating agent therapy in patients with Wilson's disease

Symptom aggravation after withdrawal of metal chelating agent therapy in patients with Wilson's disease

Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies

Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders

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