Dataset Information

Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria.

ABSTRACT: Magnetic resonance imaging (MRI) and magnetic resonance spectroscopic (MRS) findings in 3-methylcrotonylglycinuria presenting with acute metabolic decompensation in a previously healthy 7-year old female are described. The patient was hospitalized with fever, irritability, gastrointestinal problems, drowsiness, signs of upper motor neuron deficit, and rapidly progressive respiratory distress requiring assisted ventilation. Laboratory workup showed severe metabolic acidosis, and the diagnosis of 3-methylcrotonylglycinuria was established by the mass spectrometry analysis of urine sample. Although initial CT imaging workup was found to be gross normal, subsequent MRI of the brain in the early chronic stage of the disease showed symmetrical ill-defined signal abnormalities within medulla oblongata, pons, inferior cerebellar peduncles, and periventricular white matter in cerebral hemispheres. Diffusion-weighted images were unremarkable. Single-voxel proton MRS showed elevated levels of lactate, branched-chain amino acids, as well as glutamine and glutamate. To the best of our knowledge, this is the first reported case of late onset 3-methylcrotonylglycinuria with complete MRI and MRS workup in the early chronic phase after metabolic crisis.

SUBMITTER: Alshumrani GA

PROVIDER: S-EPMC6152556 | biostudies-literature | 2015 Jan-Feb

REPOSITORIES: biostudies-literature

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Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria.

Alshumrani Ghazi Adlan GA Patay Zoltan Z

Annals of Saudi medicine 20150101 1

Magnetic resonance imaging (MRI) and magnetic resonance spectroscopic (MRS) findings in 3-methylcrotonylglycinuria presenting with acute metabolic decompensation in a previously healthy 7-year old female are described. The patient was hospitalized with fever, irritability, gastrointestinal problems, drowsiness, signs of upper motor neuron deficit, and rapidly progressive respiratory distress requiring assisted ventilation. Laboratory workup showed severe metabolic acidosis, and the diagnosis of ...[more]

PMID: 26142941

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Project description:BACKGROUND:The neuroanatomic basis for cognitive impairment in chronic kidney disease (CKD) is incompletely characterized. We performed advanced quantitative structural magnetic resonance imaging (MRI) to determine whether CKD affects brain structure and whether poorer neurocognitive performance in CKD is associated with structural brain differences. STUDY DESIGN:Cross-sectional. SETTING & PARTICIPANTS:85 individuals with CKD stages 2 to 5 and 63 healthy controls, aged 8 to 25 years PREDICTORS: CKD versus control, estimated glomerular filtration rate (eGFR), and kidney transplant status were analyzed as predictors of MRI findings. MRI volumes in 19 prespecified regions of gray matter (GM), white matter (WM), and cerebrospinal fluid were analyzed as predictors of neurocognitive performance (median z scores) in 7 prespecified domains. OUTCOMES:19 prespecified brain regions of interest (ROIs) in 7 prespecified domains. Neurocognitive performance in 7 prespecified domains. MEASUREMENTS:ROI volumes were compared in CKD versus controls using unadjusted t tests and analysis of covariance (ANCOVA). Associations of ROI volumes with eGFR and kidney transplant status in participants with CKD were analyzed using ANCOVA and linear regression. Associations of neurocognitive performance and ROI volumes were analyzed by linear regression. RESULTS:Participants with CKD had lower whole-brain, cortical, and left parietal GM volumes than controls in unadjusted analyses, but no differences were found in adjusted analysis. In participants with CKD, lower eGFR was associated with higher WM volume in whole-brain (P=0.05) and frontal (P=0.04) ROIs, but differences were not significant after multiple comparisons correction. Kidney transplant recipients had lower GM volumes in whole-brain (P=0.01; Q=0.06), frontal (P=0.02; Q=0.08), and left and right parietal (P=0.01; Q=0.06; and P=0.03; Q=0.1) ROIs and higher whole-brain WM volume (P=0.04; Q=0.1). Neurocognitive performance in the CKD group was not associated with ROI volumes. LIMITATIONS:Unable to assess changes in brain structure and kidney function over time; analysis limited to prespecified ROIs and neurocognitive domains. CONCLUSIONS:CKD in children and young adults may be associated with lower GM and higher WM volumes in some ROIs. Differences were relatively subtle in the CKD group as a whole, but were more prominent in recipients of a kidney transplant. However, neurocognitive performance was not explained by differences in brain ROI volumes, suggesting a functional rather than structural basis for neurocognitive impairment in CKD.

Dataset Information

Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria.

Publications

Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria.

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