Leigh syndrome can manifest with intracranial calcifications and bleedings

[摘要] We read with interest the article by Alemao et al. about 3 patients with Leigh syndrome, who were diagnosed with the disease upon the clinical presentation and the findings on cerebral magnetic resonance imaging (MRI) [1]. In 2 of these patients the diagnosis of Leigh syndrome was genetically confirmed by demonstration of the mtDNA variant m.12622G>A in MT-ND5 (patient-1) and the variant m.9191T>C in MT-ATP6, respectively [1]. The study is appealing but raises concerns that should be discussed.

[学科分类] 生物化学工程