Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision.

Autor: Biesalski, Anne-Sophie, Hoffjan, Sabine, Schneider, Ruth, Nguyen, Huu Phuc, Dekomien, Gabriele, Lücke, Thomas, Schneider-Gold, Christiane, Matusche, Britta, Gold, Ralf, Ayzenberg, Ilya
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Zdroj: Journal of Neurology; Apr2022, Vol. 269 Issue 4, p2206-2209, 4p
Abstrakt: 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. [Extracted from the article]
Databáze: Complementary Index
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