Leigh's Disease

This will be my first of many blogs on pathology, and this one I find particularly depressing.

Leigh's disease (subacute necrotizing encephalomyelopathy) is a progressive neurological disease that degenerates the central nervous system. The sad part is that this rare disease is found in children who are diagnosed between 3 months and 2 years, though there have been few, very rare cases in adults.

Initial symptoms include:

• poor sucking ability
• can't hold head up
• loss of motor skills
• loss of appetite
• vomiting
• irritability
• crying
• seizures

After the disease progresses other symptoms are:

• weakness
• loss of muscle tone
• lactic acid build up in the body and brain that impairs breathing and kidney function
• heart problems

Diagnosis and Treatment:

Diagnosis is usually based on symptoms. There are also tests that show if there is a deficiency in pyruvate dehydrogenase, which would then be treated with a high fat low carb diet. Presence of lactic acidosis is also another symptom. Vitamins such as thiamine are prescribed and well as other medications to treat symptoms.

However, there is no definite cure, and the patients will usually die within 2 years of diagnosis, or by age 6. There have been rare cases of children living into their early teen years. Death is usually from respiratory failure.

In imaging, there are symmetrical patches that are usually on the deep grey matter, but it does not necessarily stay contained there. It is important to image the spinal cord, optic nerve, and peripheral nerve.