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Maternally inherited Leigh syndrome — Clinical Guidelines

Overview

Maternally inherited Leigh syndrome is a progressive neurodegenerative disorder characterized by mitochondrial dysfunction, leading to characteristic brainstem and basal ganglia lesions, often with early onset and diverse clinical manifestations including developmental delay, respiratory issues, and metabolic abnormalities 1 2 5.

Diagnosis

Clinical Presentation: Developmental delay, respiratory abnormalities, hypotonia, and characteristic MRI findings (symmetric brainstem lesions) 1 2 5.

Genetic Testing: Exome sequencing to identify mutations in genes such as PDHA1, SLC19A3, and SURF-1 2 3 6.

Biochemical Markers: Elevated lactate levels in blood and cerebrospinal fluid 1 5.

Muscle Biopsy: May show mitochondrial abnormalities or DNA depletion 5.

MRI Findings: Symmetric T2 hyperintensities in brainstem and basal ganglia 2 5.

Management

Supportive Care: Management of symptoms including respiratory support, nutritional interventions, and physical therapy 4.

Dietary Modifications: Ketogenic diet and supplementation with vitamin B1 and coenzyme Q10 2.

Avoidance of Mitochondrial Toxins: Steer clear of compounds toxic to mitochondria to prevent exacerbation 1.

Special Populations

Pediatrics: Early recognition and multidisciplinary management crucial due to rapid progression 2 4.

Comorbidities: Consider mitochondrial DNA depletion as a potential cause in cases with lactic acidosis and MRI findings consistent with Leigh syndrome 5.

Key Recommendations

Utilize exome sequencing for genetic diagnosis in suspected cases of Leigh syndrome (Evidence: Moderate 2 3).

Implement supportive measures tailored to individual symptoms, including respiratory support and nutritional management (Evidence: Expert opinion 4).

Avoid exposure to mitochondrial toxins to prevent further neurological decline (Evidence: Weak 1).

Consider mitochondrial DNA analysis in patients presenting with Leigh syndrome and lactic acidosis (Evidence: Moderate 5).

References

1 Finsterer J. Mitochondrion-Toxic Compounds Need to be avoided in Leigh Syndrome. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2022. link 2 Gong K, Xie L, Wu ZS, Xie X, Zhang XX, Chen JL. Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy. Molecular genetics & genomic medicine 2021. link 3 Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B et al.. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain : a journal of neurology 2013. link 4 Gozal D, Goldin E, Shafran-Tikva S, Tal D, Wengrower D. Leigh syndrome: anesthetic management in complicated endoscopic procedures. Paediatric anaesthesia 2006. link 5 Absalon MJ, Harding CO, Fain DR, Li L, Mack KJ. Leigh syndrome in an infant resulting from mitochondrial DNA depletion. Pediatric neurology 2001. link00226-5) 6 Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L et al.. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Annals of neurology 1999. link46:2<161::aid-ana4>3.0.co;2-o) 7 Seitz RJ, Langes K, Frenzel H, Kluitmann G, Wechsler W. Congenital Leigh's disease: panencephalomyelopathy and peripheral neuropathy. Acta neuropathologica 1984. link

Maternally inherited Leigh syndrome