We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision.
- Authors
Biesalski, Anne-Sophie; Hoffjan, Sabine; Schneider, Ruth; Nguyen, Huu Phuc; Dekomien, Gabriele; Lücke, Thomas; Schneider-Gold, Christiane; Matusche, Britta; Gold, Ralf; Ayzenberg, Ilya
- Abstract
After 6 months of betaine therapy, this patient showed minimal improvement of the visual acuity without changes in VEP and OCT, as well. 10.1001/jamaneurol.2013.4915 6 Schiff M, Benoist JF, Tilea B. Isolated remethylation disorders: do our treatments benefit patients? Posterior reversible encephalopathy syndrome (PRES) could not be confirmed either in the MRI or based on the course of the disease (slowly progressive deterioration of visual acuity and a good response to betaine therapy). Homocysteine level decreased to 66.0 mol/l. Three months follow-up MRI surprisingly showed a notable reduction of paraventricular leukoencephalopathy with regressive hyperintense T2 lesions (Fig.
- Subjects
METHYLENETETRAHYDROFOLATE reductase; VISION disorders; POSTERIOR leukoencephalopathy syndrome
- Publication
Journal of Neurology, 2022, Vol 269, Issue 4, p2206
- ISSN
0340-5354
- Publication type
Article
- DOI
10.1007/s00415-021-10841-x