Childhood-Onset Progressive Dystonia With Mitochondrial DNA G14459AMutation: Efficacy of Long-Term Sodium Succinate Treatment

[摘要] This article reports the case of an 11-year-old boy with progressive dystonia caused bythe homoplasmic G14459A mitochondrial DNA mutation. The patient presented with focaldystonia in the right upper limb at 3 years of age, which progressed over 4 years toexhibit dystonia in both the upper and lower limbs. At 7 years of age, high signalintensity lesions in the bilateral striata and the midbrain were observed onfluid-attenuated inversion recovery images. It was observed on diffusion-weighted imagesthat with time, these high signal intensity lesions migrated from the putamen to thecaudate nuclei, which closely correlated with disease progression. Because his symptomsand abnormal magnetic resonance imaging findings progressed despite treatment withcoenzyme Q10 and l-carnitine, at 7 years of age he was then started on sodiumsuccinate, hoping to improve his complex I deficiency. After treatment, progression of MRIabnormalities appeared to have been suppressed for 4 years, although no improvement wasobserved in dystonia.

[学科分类] 儿科学

[关键词] mitochondrial DNA;Leber hereditary optic neuropathy;dystonia