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Updated: Aug 10, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria
A P Burlina1, R Manara, M Calderone
1Department of Neurological and Psychiatric Sciences, Azienda Ospedale, University of Padova, Italy.
Abstract:
Diffusion-weighted magnetic resonance imaging (DW-MRI) of the brain was performed in two patients with methylmalonic aciduria who presented signs and symptoms of neurological involvement without metabolic decompensation. Patient 1 presented acute metabolic stroke and patient 2 presented subacute encephalopathy. Brain DW-MRI confirmed very recent damage in patient 1, while the absence of brain lesions on brain DW-MRI indicates the development of more chronic damage in patient 2. Brain DW-MRI represents an additional and complementary tool in the assessment of brain damage in methylmalonic aciduria patients who develop neurological syndrome.
Insights
Diffusion-weighted MRI (DW-MRI) helps assess brain damage in methylmalonic aciduria. This technique differentiates acute stroke from chronic encephalopathy in affected patients, aiding neurological assessment.
Area of Science:
- Neurology
- Radiology
- Metabolic Disorders
Background:
- Methylmalonic aciduria is a rare metabolic disorder.
- Neurological involvement can occur without overt metabolic decompensation.
- Early assessment of brain damage is crucial for patient management.
Purpose of the Study:
- To evaluate the utility of Diffusion-weighted magnetic resonance imaging (DW-MRI) in assessing brain damage in patients with methylmalonic aciduria.
- To differentiate between acute and chronic neurological damage in these patients.
Main Methods:
- Brain DW-MRI was performed on two patients with methylmalonic aciduria presenting with neurological symptoms.
- Clinical presentation and imaging findings were correlated to assess the extent and type of brain damage.
Main Results:
- Patient 1, with acute metabolic stroke, showed very recent brain damage on DW-MRI.
- Patient 2, with subacute encephalopathy, had no brain lesions on DW-MRI, suggesting chronic damage.
Conclusions:
- Brain DW-MRI is a valuable complementary tool for assessing neurological damage in methylmalonic aciduria.
- DW-MRI can distinguish between acute and chronic brain injury in this patient population.
- This imaging modality aids in the comprehensive evaluation of neurological syndromes associated with methylmalonic aciduria.
