Leigh Syndrome : causes, symptoms, diagnosis, treatment

Leigh Syndrome is a fatal nervous disorder that commonly appears in the early 12 months of life. It is highly featured as a continuous damage to nervous along with psychomotor capabilities also demise in 2 to 3 years generally resulted. The main cause of the death is respiratory failure few patients do not get symptoms until adult or have signs that gets severe more gradually.

Other names of Leigh disease

  • Infantile sub-acute necrosis encephalopathy
  • Teenage sub-acute necrotizing encephalopathy
  • Sub-acute necrosis encephalomyelopathy


  • Denis Leigh, a British neuropathologist, in 1951, firstly explained severe Sub-acute necrosis encephalomyelopathy.
  • He reported the case of an infant with developmental regression at the age of 6.5 months that continuously progressed and resulted in death over a period of 6-weak.
  • Worsley and his colleagues first associated Leigh syndrome with lactic acidosis. Farmer first detected mitochondrial enzyme deficiency and associates it with pyruvate dehydrogenase complex deficiency.
  • Willems and colleagues in 1977 described that Leigh syndrome has a heterogeneous origin and has a having association with cytochrome C oxidase (COX) deficiency.

Causes of Leigh Syndrome

Leigh’s disorder is a pure genetic disorder. So main cause of this disease is a mutation or chromosomal abnormal disjunction.

  • Autosomal recessive disease
  • Autosomal dominant disease

X-linked disorder

Mitochondrial DNA mutations disease

Symptoms of Leigh Syndrome

The symptoms of Leigh disorder are described as beginning into infancy and leading to death within several years, however, as more cases are observed, it shows that symptoms can arise at any age including childhood or adulthood.

  • Episodic development of regression during metabolic stress.
  • Diarrhea, dilute vomiting, and trouble in swallowing.
  • Children with early Leigh disease may show irritability and cry.
  • Seizures
  • High lactate level in the urine, cerebrospinal fluid, and blood.
  • The Muscular systembecomes weak because the brain fails to control the contraction of muscles. 
  • Involuntary eye movements (Nystagmus).
  • The Slow movement of the eye between fixation points.
  • Heart and lungs
  • Thickening of the heart muscle (Hypertrophic cardiomyopathy) can cause death.
  • Children of Leigh disease are seen with a high forehead and large ears due to ventricular septal defects, induced by pyruvate dehydrogenase deficiency.

Diagnosis of Leigh Syndrome

Due to erratic nature of illness along with clear nonattendance of an exact biological otherwise pathogen attack, there are many ways to diagnoses this disease. I order to identify brain lesions, MRI, or autopsy procedure is used.

Nucleus related disease diagnosis

  • Characteristic clinical representation
  • Clear Evidences of poor energy metabolism based
  • High lactate level in blood and CSF
  • Poor pyruvate dehydrogenase activity

Clinical Findings

On clinical investigations of nuclear gene-encoded Leigh syndrome, results showed the variation in phenotype, but other results presented changes in genes. For example:

  • 40 patients with alternatives into gene SURFI stated. The Survival rate is high with SURF1 deficiency than those with LRPPRC deficiency.
  • Brain abnormalities are seen in males with variations in PDHA1.

Treatment of Leigh Syndrome

Leigh syndrome is a genetic disease, so there is no proper treatment for the cure of this disease.

  • The most widely used handling for Leigh’s disease is use of Thiamin.
  • Oral injection of Na bicarbonate.
  • Individual X Linked arrangement of Leigh’s illness may be suggested to take diet with low carbohydrates.


The anticipation for people with Leigh’s illness is poor. People who need mitochondrial complex IV movement and those with pyruvate dehydrogenase inadequacy will in general have the most noticeably terrible visualization and kick the bucket inside a couple of years.

If both the parents of proband are heterozygous, there are 25% chances of him being a carrier.

  • Leigh syndrome is a genetic disease, so there is no proper treatment for the cure of this disease
  • 40 patients with variations in gene SURF1 have been reported. The Survival rate is high with SURF1 deficiency than those with LRPPRC deficiency.

Leave a Comment