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Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings
Hemant Parmar1, Yih Yian Sitoh, Ling Ho
1Department of Neuroradiology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore 308443, Republic of Singapore. parurad@hotmail.com
Journal of Computer Assisted Tomography
|January 13, 2004
Summary
Maple syrup urine disease (MSUD) in neonates shows specific white matter changes on MRI. Diffusion imaging aids in diagnosing MSUD by revealing cytotoxic edema and damaged nerve cells.
Area of Science:
- Neuroimaging
- Pediatric Neurology
- Metabolic Disorders
Background:
- Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder.
- Early diagnosis and management are crucial for neurodevelopmental outcomes.
Observation:
- This study details magnetic resonance (MR) imaging findings in a 10-day-old neonate with MSUD.
- Conventional MR imaging revealed signal abnormalities in specific white matter regions.
Findings:
- Diffusion-weighted imaging (DWI) showed marked hyperintensity with reduced apparent diffusion coefficient (ADC) values in affected white matter.
- Diffusion-tensor imaging (DTI) demonstrated decreased fractional anisotropy (FA) in corresponding areas, suggesting impaired white matter integrity.
- These findings indicate cytotoxic edema and damage to oligodendro-axonal units.
Implications:
- DWI and DTI are valuable tools for diagnosing MSUD in neonates.
- These advanced MR techniques enhance understanding of MSUD's neuropathogenesis.
- The imaging findings correlate with cytotoxic edema and white matter damage.