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Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia
A Yeşildağ1, A Ayata, B Baykal
1Department of Radiology, Suleyman Demirel University School of Medicine, Isparta, Turkey. ahmetysd@hotmail.com
Acta Radiologica (Stockholm, Sweden : 1987)
|April 22, 2005
Summary
Methylmalonic acidemia (MMA) is a metabolic disorder causing neurological issues. Brain MRI in a patient showed specific signal changes in the globi pallidi during metabolic acidosis.
Area of Science:
- Biochemistry
- Neurology
- Medical Imaging
Background:
- Methylmalonic acidemia (MMA) is an inherited metabolic disorder affecting amino acid breakdown.
- Neurological complications are common in patients with MMA.
- Early diagnosis and management are crucial for patient outcomes.
Observation:
- A 16-month-old male patient presented with symptoms consistent with MMA.
- Magnetic Resonance Imaging (MRI) and Diffusion-Weighted Imaging (DWI) of the brain were performed.
- The patient experienced an acute episode of metabolic acidosis.
Findings:
- MRI revealed hyperintensity in the globi pallidi on T2-weighted images.
- DWI also showed hyperintensity in the globi pallidi during the acute metabolic acidosis episode.
- These findings correlate with the neurological presentation of MMA.
Implications:
- MRI and DWI can help identify characteristic brain changes in MMA.
- Understanding these imaging findings aids in diagnosing and monitoring MMA.
- This case highlights the utility of advanced neuroimaging in inborn errors of metabolism.