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Updated: Aug 13, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Reversible white matter lesion in methionine adenosyltransferase I/III deficiency
Hiroko Tada1, Jun-ichi Takanashi, A James Barkovich
1Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan.
Abstract:
A 5-year-old boy with methionine adenosyltransferase (MAT) I/III deficiency, under treatment for the tentative diagnosis of homocystinuria, presented with mildly decreased appetite and sleepiness. MR imaging showed abnormal T1 and T2 prolongations and reduced diffusion in the cerebral white matter. Clinical symptoms and MR imaging findings improved after discontinuation of therapy. We speculate that inappropriate treatment might enhance CNS lesions of MAT I/III deficiency by causing a reversible vacuolating myelinopathy.
Insights
Methionine adenosyltransferase (MAT) I/III deficiency can cause central nervous system (CNS) lesions. Inappropriate treatment may worsen these lesions, leading to reversible vacuolating myelinopathy.
Area of Science:
- Biochemistry
- Neurology
- Pediatrics
Background:
- Methionine adenosyltransferase (MAT) I/III deficiency is a rare metabolic disorder.
- Patients are often initially treated for suspected homocystinuria.
- Central nervous system (CNS) involvement can occur in MAT I/III deficiency.
Observation:
- A 5-year-old boy with diagnosed methionine adenosyltransferase (MAT) I/III deficiency presented with decreased appetite and sleepiness.
- Cerebral white matter abnormalities, including prolonged T1 and T2 signals and reduced diffusion, were observed on MR imaging.
Findings:
- Clinical symptoms and MR imaging findings improved after discontinuing the patient's treatment.
- The study speculates that the treatment may have exacerbated central nervous system (CNS) lesions.
Implications:
- Inappropriate treatment for MAT I/III deficiency might induce reversible vacuolating myelinopathy.
- This highlights the importance of accurate diagnosis and tailored treatment strategies for metabolic disorders.
