Leigh's disease Overview:
Leigh's disease is a rare inherited neurometabolic disorder characterized by degeneration of the central nervous system. Also Leigh's disease is a subacute necrotizing encephalomyelopathy affecting the gray matter. Histologic features include necrosis, proliferation of blood vessels, gliosis, and preservation of neurons (similar to that of Wernicke’s encephalopathy).
Other definition of Leigh's disease:
Leigh's disease is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh's disease usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. As Leigh's disease progresses, symptoms may also include generalized weakness, lack of muscle tone (hypotonia), and episodes of lactic acidosis, which may lead to impairment of respiratory and kidney function.
There appear to be several different types of genetically determined enzyme defects that can cause Leigh's disease. Most individuals with Leigh's disease have defects of mitochondrial energy production, such as deficiency of an enzyme of the mitochondrial respiratory chain complex or the pyruvate dehydrogenase complex. In most cases, Leigh's disease is inherited as an autosomal recessive trait. However, X-linked recessive and mitochondrial inheritance have also been noted. |
Leigh's disease Symptoms:
A rapidly progressive disorder, usually begin between the ages of 3 months and 2 years. In most children, the first noticeable signs may be poor sucking ability, loss of head control, and loss of previously acquired motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and/or seizures.
As Leigh's diseaser progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis. Lactic acidosis, the accumulation of lactic acid in the brain, may lead to impairment of respiratory and kidney function. Heart problems may also occur. In rare cases, Leigh's disease may begin during late adolescence or early adulthood. In these cases, the progression of the disease is slower than the classical form.
The most common treatment for Leigh's disease is the administration of thiamine or Vitamin B1. In patients who have a deficiency of pyruvate dehydrogenase enzyme complex, a high-fat, low-carbohydrate diet may be recommended. Oral sodium bicarbonate or sodium citrate may also be prescribed for management of lactic acidosis.
The prognosis for individuals with Leigh's disease is poor. Death usually occurs within a few years. Occasionally, patients may live to be 6 or 7 years of age and a few patients have survived to the mid-teenage years. Children who survive the initial bout with the disease may not fully recover and are likely to face successive bouts of devastating illness which ultimately causes death.
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