Leigh's Disease

Leigh's disease is a rare inherited neurometabolic disorder characterized by degeneration of the central nervous system.

Symptoms of Leigh's disease, 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 the disorder 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.

Information provided by the
National Institute of Neurological Disorders and Stroke
National Institutes of Health

Each year, Medical College of Wisconsin physicians care for more than 180,000 patients, representing nearly 500,000 patient visits. Medical College physicians practice at Children's Hospital of Wisconsin, Froedtert Memorial Lutheran Hospital, the Milwaukee VA Medical Center, and many other hospitals and clinics in Milwaukee and southeastern Wisconsin.