Peripheral Neuropathies
X linked Charcot-Marie-Tooth disease type 1
Oct. 16, 2023
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Neurologic recovery with oral folinic acid in patient with cerebral folate deficiency (1)
Brain MRI of a patient with cerebral folate deficiency from age 2 to 12 years. T2-weighted images are shown at 2 years (column 1: A1-E1), 5 years (column 2: A2-E2), 7 years (column 3: A3-E3), 10 years (column 4: A4-E4), and 12 years (column 5: A5-E5). Sagittal (panel A) images show mild to moderate thinning of the corpus callosum (white arrowhead), as well as mild cerebellar atrophy (white arrow). In panels B1-3, C1-3, and D1-3, severe lack of myelin deposition and progressive cerebral atrophy are shown. In panels B4-5, C4-5, and D4-5, improvement in myelination is seen, but incomplete myelination is still present at age 12 years. Brain volume has improved at ages 10 and 12 years (B4-5, C4-5, and D4-5). In panel E, insufficient myelin deposition is shown in E1-2 in both the pons (white double-lined arrow) and cerebellum (white dashed arrow), with improvement in the pons at age 7 years (E3-5, white double-lined arrow) and significant improvement in the cerebellum at ages 10 and 12 years (E4-5, white double-lined arrows). Progressive cerebellar atrophy is evident between ages 2 and 7 years (E1-3), with improvement in subsequent MRIs done at ages 10 and 12 years (E4-5). (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.)