HMG-CoA lyase deficiency
Dec. 27, 2023
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Diffuse white matter abnormalities and subsequent improvement with folinic acid treatment (MRI)
(A) T2-weighted coronal MRI showing abnormal high signal sparing the subcortical white matter with slightly periventricular location at age 8 years before folinic acid treatment. (B) T2-weighted coronal MRI showing improvement after 2 years of folinic acid treatment (age 10). (C) T2-weighted axial MRI showing abnormal high signal in the parietal white matter was also observed at age 8 years and before folinic acid treatment. (D) T2-weighted axial MRI shows improvement after 2 years of folinic acid treatment with near-normal white matter signal (age 10). (Source: Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, et al. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. Orphanet J Rare Dis 2014;9:217.) (Creative Commons Attribution 4.0 International license.)