Leigh's Disease
It’s very uncommon inherited
neurometabolic disorder which affects the CNS.
SYMPTOMS:
The symptoms can occur anytime between intra-uterine
life or 3 months and 2 years or in adolescence or in adulthood. Symptoms are like diarrhoea, dysphagia
and vomiting, with irritable nature, Seizures, hypotonia, ataxia,
ophthalmoparesis, lactic acidosis, hypertrophic cardiomyoathy and peripheral
neuropathy.
DIAGNOSIS:
Leigh syndrome is
diagnosed by clinical features and confirmed by laboratory and genetic testing.
TREATMENT:
There is no
known effective treatment. A low carbohydrate and high fat diet can be followed.
Vitamin B1 can be used as a supplement. Dichloroacetate can also be
used.
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