Leigh syndrome: management
Evidence-based neurology checklist on leigh syndrome: management: Pathological features Subacute necrotising encephalopathy Respiratory chain dysfunction Pyruvate dehydrogenase complex (PDHC) dysfunction Biochemical investigations Magnetic resonance imaging (MRI): basal ganglia lesions Magnetic…
Pathological features
- Subacute necrotising encephalopathy
- Respiratory chain dysfunction
- Pyruvate dehydrogenase complex (PDHC) dysfunction
Biochemical investigations
Magnetic resonance imaging (MRI): basal ganglia lesions
Magnetic resonance imaging (MRI): other features
Treatment
References
- Baertling F, Rodenburg RJ, Schaper J, et al. A guide to diagnosis and treatment of Leigh syndrome. JNNP 2014; 85:257-265.
- Yang YL, Sun F, Zhang Y, et al. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Chin Med J (Engl) 2006; 119:373-377.
- Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H. Neuroradiologic findings in children with mitochondrial disorders. Am J Neuroradiol 19:369-377.
- Ortigoza-Escobar JD, Molero-Luis M, Arias A, et al. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. Brain 2016; 139:31-38.
