Hyperornithinemia
May. 03, 2023
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Neurologic recovery with oral folinic acid in patient with cerebral folate deficiency (2)
Brain MRI of a patient with cerebral folate deficiency from age 2 to 6 years. T2-weighted images are shown at 2 years (column 1: A1-E1), 3 years (column 2: A2-E2), 4 years (column 3: A3-E3), and 6 years (column 4: A4-E4). Sagittal (panel A) images show mild thinning of the corpus callosum (white arrowhead) but otherwise normal midline structures. In panels B, C, D, and E, delayed myelination is shown, with complete myelination achieved only at age 6 years (B4, C4, D4, and E4). (Source: Potic A, Perrier S, Radovic T, et al. Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature. Orphanet J Rare Dis 2023;18[1]:187. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)