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Diffusion magnetic resonance imaging in intermediate form of maple syrup urine disease
1Ege University Hospital, Department of Radiology, Bornova, Izmir 35100, Turkey. rnsener@hotmail.com
Abstract:
An 8-year-old boy with the intermediate variant of maple syrup urine disease is reported. On b = 1000 s/mm2 (heavily diffusion weighted) images of diffusion magnetic resonance imaging, there was symmetric high signal in the globus pallidus, mesencephalon, dorsal pons, and nucleus dentatus, consistent with restriction of the mobility of water molecules. Apparent diffusion coefficient (ADC) maps revealed low ADC values ranging from 0.42 to 0.56 x 10(-3) mm2/s in these regions, compared to those of apparently unaffected regions in the brain parenchyma ranging from 0.63 to 0.97 x 10(-3) mm2/s. It is suggested that the areas of increased signal (and low ADC values) are the result of dysmyelination as a reflection of disorganized tissue integrity.
Insights
Maple syrup urine disease (MSUD) can cause brain abnormalities. Diffusion MRI revealed restricted water movement in specific brain regions, suggesting dysmyelination in an 8-year-old boy with intermediate MSUD.
Area of Science:
- Neuroimaging
- Metabolic Disorders
- Pediatric Neurology
Background:
- Maple syrup urine disease (MSUD) is an inherited metabolic disorder affecting amino acid metabolism.
- The intermediate variant of MSUD presents with milder symptoms than classic forms.
- Neuroimaging plays a crucial role in understanding the neurological impact of MSUD.
Observation:
- Diffusion magnetic resonance imaging (dMRI) was performed on an 8-year-old boy with intermediate MSUD.
- Heavily diffusion-weighted images (b=1000 s/mm2) showed symmetric high signal intensity in the globus pallidus, mesencephalon, dorsal pons, and nucleus dentatus.
- Apparent diffusion coefficient (ADC) maps indicated significantly reduced ADC values in these affected brain regions.
Findings:
- The observed high signal on dMRI suggests restricted diffusion, indicating decreased water molecule mobility.
- Low ADC values (0.42–0.56 x 10(-3) mm2/s) in specific brain areas confirm restricted diffusion.
- These findings are consistent with dysmyelination and disorganized tissue integrity in the affected regions.
Implications:
- dMRI can identify characteristic patterns of brain involvement in intermediate MSUD.
- The findings suggest that dysmyelination is a key pathological feature in this variant of MSUD.
- This case highlights the utility of advanced MRI techniques in diagnosing and characterizing metabolic encephalopathies.