Leigh Syndrome

Leigh Syndrome is a severe neurometabolic disorder that usually its symptoms start during the first year of life. It appears at least in 1:40,000 births and it is caused by mutations in nuclear or mitochondrial genes related to respiratory chain and energy in general necessary for cells. Depending on the origin of the mutated gene, inheritance pattern is defined. The most frequent inheritance pattern is autosomal recessive, even though in 20% of the cases present a maternal pattern, due the mutated mitochondrial genes and in a small percentage of cases the pattern is X linked recessive.

Symptoms

Progressive loss of mental and movement abilities along with respiratory failure are present. These symptoms may appear during adulthood or may progress slowly in a small percentage of case. In particular they include:

  • Vomiting
  • Diarrhea
  • Dysfagia
  • Inadequate growth
  • Hypotonia – loss of head control
  • Contractures
  • Αtaxia
  • Seizures and epileptic crisis
  • Continuous crying
  • Loss of senses and muscle weakness of limbs (peripheral neuropathy)
  • Οpthalmoparesis
  • Νystagmus
  • Οptic atrophy
  • Hypertrophic cardiomyopathy

Diagnosis

  • Muscle biopsy
  • Measuring lactic acid concentration
  • Respiratory chain enzyme testing
  • Brain MRI
  • Genetic testing

Treatment

There is no cure yet, but medication is needed for dealing with the symptoms of lactic acidosis and body enhancement. Thiamine or vitamin B1, sodium bicarbonate or sodium citrate is prescribed.  Dichloroacetate is also being tested for the treatment of lactic acidosis. In individuals with the X linked Leigh Syndrome high fat, low carbohydrate diet is suggested. Regular physiotherapy is also recommended.

 

Useful links

  1. https://www.ninds.nih.gov/Disorders/All-Disorders/Leighs-Disease-Information-Page
  2. https://ghr.nlm.nih.gov/condition/leigh-syndrome
  3. https://medlineplus.gov/mitochondrialdiseases.html
  4. https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome
  5. https://rarediseases.info.nih.gov/diseases/3671/mitochondrial-dna-associated-leigh-syndrome
  6. https://rarediseases.info.nih.gov/diseases/12941/nuclear-gene-encoded-leigh-syndrome
  7. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=506
  8. https://www.umdf.org/types/leighs-disease/

 

Support Groups

  1. https://www.mitoaction.org/
  2. https://rarediseases.org/rare-diseases/leigh-syndrome/
  3. https://www.umdf.org/

References

  1. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996; 39(3):343-51.
  2. Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: One disorder, more than 75 monogenic causes. Ann Neurol. 2016; 79(2):190-203.
  3. Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008; 39(4):223-35.
  4. Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome and NARP. 2003 Oct 30 [updated 2014 Apr 17]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1173/

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