Leigh's disease
| Leigh disease | |
|---|---|
| Synonyms | juvenile subacute necrotizing encephalomyelopathy, Leigh syndrome, infantile subacute necrotizing encephalomyelopathy, subacute necrotizing encephalomyelopathy (SNEM) |
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| Detection of numerous ragged red fibers in a muscle biopsy | |
| Classification and external resources | |
| Specialty | neurology |
| ICD-10 | G31.8 |
| ICD-9-CM | 330.8 |
| OMIM | 256000 |
| DiseasesDB | 30792 |
| MeSH | D007888 |
Leigh disease (also called Leigh syndrome and subacute necrotizing encephalomyelopathy) is a rare inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951.
The symptoms of Leigh disease typically begin within a year of a child's birth and lead to death within a span of several years, though symptoms can appear any time between the ages of three months and two years or very rarely in adolescence or adulthood. Occasionally, Leigh syndrome can begin to develop in utero. Symptoms are often first seen after a triggering event that taxes the body's energy production, such as an infection or surgery. The general course of Leigh disease is one of rapid developmental regression.
Infants with the syndrome have symptoms that include diarrhea, vomiting, and dysphagia (trouble swallowing or sucking), leading to a failure to thrive. Children with early Leigh disease also may appear irritable and cry much more than usual. Seizures are often seen. Excess lactate may be seen in the urine, cerebrospinal fluid, and blood of a person with Leigh syndrome.
As the disease progresses, the muscular system is debilitated throughout the body, as the brain cannot control the contraction of muscles. Hypotonia (low muscle tone and strength), dystonia (involuntary, sustained muscle contraction), and ataxia (lack of control over movement) are often seen in people with Leigh disease. The eyes are particularly affected; the muscles that control the eyes become weak, paralyzed, or uncontrollable in conditions called ophthalmoparesis (weakness or paralysis) and nystagmus (involuntary eye movements). Slow saccades are also sometimes seen. The heart and lungs can also fail as a result of Leigh disease. Hypertrophic cardiomyopathy (thickening of part of the heart muscle) is also sometimes found and can cause death;asymmetric septal hypertrophy has also been associated with Leigh syndrome. In children with Leigh-syndrome associated ventricular septal defects, caused by pyruvate dehydrogenase deficiency, high forehead and large ears are seen; facial abnormalities are not typical of Leigh syndrome.
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