Leigh’s syndrome – Causes, Symptoms

Leigh’s disease can prove to be incurable and deadly. It is an inherited neuro-metabolic disorder, meaning that, there is a hindrance in the internal functions of the nerve cells. A major relapse in the central nervous system comprising of the brain, spinal chord and optic nerve is the major characteristic of Leigh syndrome.

Результат пошуку зображень за запитом "leigh syndrome"This generally occurs because of the complications in the tiny-structured power stations called ‘mito-chondria’, which is present in every cell. In rare cases, symmetrical damage of the nerve cells occurs because of defective metabolism rate.

CAUSES

In medical terms, Leigh’s disease occurs either because of the two possibilities:

  • Mutations in mito-chondrial DNA
  • Deficiency of X linked enzyme called pyruvate dehydrognenase.

Mutation in mito-chondrial DNA leads to deficiency of cyto-chrome c-oxidase. This is a genetic problem, which in most cases, the mother is highly at risk by this gene. Thus all her children have a high chance of inheriting the gene.

Meanwhile, in case of deficiency of pyruvate dehydrognenase, it is the males who are at high risk of inheriting this gene. While, the females are mere carriers.

SYMPTOMS

In most cases, the symptoms of Leigh Disease begin to show up when the child is between the age group of three months to two years. In very rare cases, chances are Leigh disease advances during the phase of adolescence.

The following are the different symptoms due to progressive neurological deterioration. These include:

  • Loss of previously acquired motor skills
  • Loss of appetite
  • Vomiting
  • Irritability

As the Leigh syndrome advances, the accumulation of lactic acid may lead to functioning of respiratory and kidney functions. Sometimes, there are signs of cardiovascular related problems.

DIAGONSIS

Leigh Disease is diagnosed clinically either on the

  • Basis of clinical characteristics
  • Abnormalities in biochemistry
  • Typical brain MR images
  • Genetic tests
  • Prenatal screening

TREATMENT

As such there is no permanent cure for Leigh Disease. Moreover, the chance for survival is very minimal. In case of patients suffering from deficiency of pyruvate dehydrogenase enzyme complex, normally a high fat and low carbohydrate diet may be recommended. In most cases, oral sodium bicarbonate is administered to control the accumulation of the fluid in the brain. Other methods of treatment include

  • Vitamins such as thiamine and Vitamin B1
  • Physical, occupational and speech therapy
  • Drug therapy to control further complications

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