A guide to diagnosis and treatment of Leigh syndrome

  title={A guide to diagnosis and treatment of Leigh syndrome},
  author={F Baertling and Richard J.T. Rodenburg and J{\"o}rg Schaper and Jan A M Smeitink and Werner J. H. Koopman and Ertan Mayatepek and Eva Morava and Felix Distelmaier},
  journal={Journal of Neurology, Neurosurgery \& Psychiatry},
  pages={257 - 265}
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported. Since its first description by Denis Archibald Leigh in 1951, it has evolved from a postmortem diagnosis, strictly defined by histopathological observations, to a clinical entity with indicative laboratory and radiological findings. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a… 
The genetics of Leigh syndrome and its implications for clinical practice and risk management
Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms.
Leigh's disease, a fatal finding in the common world: A case report
The neuroimaging of Leigh syndrome: case series and review of the literature
It is found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes, and a lack of visible lesions does not exclude the diagnosis.
Mitochondrial DNA mutations in late-onset Leigh syndrome
The study helps to define the types of clinical and neuroimaging finding in late-onset LS with the mutations of mtDNA, and expects to shed light on the identification of genotype–phenotype and genotype-neuroimaging correlations.
Molecular basis of Leigh syndrome: a current look
Clinical presentation in both classic and atypical phenotypes, the investigation pathway throughout confirmation emphasizing the underlying genetic heterogeneity and increasing number of genes assigned to this syndrome as well as available treatment are highlighted.
Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome
It is suggested that age at onset and initial neuroimaging findings are prognostic indicators in LS, and the neurological severity and outcome of LS may vary widely and be better than those predicted based on previous studies.
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Evaluated clinical validity of various diagnostic tools in confirming MRC disorder in LS and Leigh-like syndrome suggests that highest diagnostic rate is reached using a combined enzymatic and genetic approach, analyzing more than one type of biological materials where suitable.
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
A large genetically defined LS cohort is reported, adding new data on phenotype-genotype correlation, prognostic factors and possible suggestions to diagnostic workup, showing SURF1 as the genotype with the most unfavorable prognosis, differently from other cohorts reported to date.
A case report of Leigh syndrome diagnosed by endomyocardial biopsy
A case of Leigh syndrome diagnosed by endomyocardial biopsy (EMB), not by skeletal muscle biopsy, is reported, which shows EMB is a useful diagnostic method when there is a difficulty in diagnosing mitochondrial disease by skeletal Muscle biopsy.


MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect.
MR studies were correlated with biochemical results in nine children who presented with lactic acidosis and/or abnormal MR findings in the basal ganglia, finding the remarkably symmetrical involvement, most frequently of the putamen, in SNE.
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome
Considering T8993G mutation early in the diagnostic evaluation of infantile mitochondrial diseases with hypocitrullinemia minimizes the need for invasive procedures associated with a small but nonnegligible risk of complications and incorrect diagnosis.
Neuroimaging findings in pediatric Wernicke encephalopathy: a review
An update on neuroradiologic findings in children affected by Wernicke encephalopathy is provided in an effort to determine pertinent clinical and imaging findings that can improve the detection and early identification of the disease.
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations
The findings suggest that the presence of HOD on brain magnetic resonance (MR) imaging in patients with progressive mitochondrial syndromes in the absence of palatal tremor should alert the clinician to the possibility of a mitochondrial disorder and the need to screen for mutations in POLG and SURF1 genes.
An adult case of Leigh disease
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency
A 22-year-old woman with partial cytochrome c oxidase deficiency who developed fulminant LS following an acute febrile illness and who subsequently showed dramatic clinical and neuroradiologic improvement is described.
Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome.
  • H. Dahl
  • Medicine, Psychology
    American journal of human genetics
  • 1998
Definite diagnosis of this neurodegenerative disorder still depends on the identification, either in postmortem samples or by use of neuroimaging techniques, of the characteristic neuropathology of focal, bilaterally symmetrical spongiform lesions, especially in the thalamus and brain stem regions.
Neuroradiologic findings in children with mitochondrial disorders.
MR imaging is helpful in the diagnosis of the classical mitochondrial diseases; however, nonspecific findings are common.