From the Research
Leigh's disease, also known as subacute necrotizing encephalomyelopathy, is diagnosed using specific clinical, biochemical, and neuroimaging criteria, including elevated lactate levels, characteristic neuroimaging findings, and genetic testing to confirm mutations in mitochondrial or nuclear DNA affecting mitochondrial function, as supported by the most recent study 1. The diagnosis of Leigh's disease requires a combination of:
- Progressive neurological disease with motor and intellectual developmental delay
- Signs and symptoms of brainstem and/or basal ganglia disease
- Elevated lactate levels in blood and/or cerebrospinal fluid
- Characteristic neuroimaging findings, such as bilateral, symmetric lesions in the basal ganglia, thalamus, brainstem, cerebellum, or spinal cord on MRI
- Genetic testing to confirm mutations in mitochondrial DNA or nuclear DNA affecting mitochondrial function
- Muscle biopsy may reveal ragged red fibers and abnormal mitochondria
The disease typically presents before age two with:
- Developmental regression
- Hypotonia
- Abnormal eye movements
- Seizures
- Respiratory abnormalities
- Feeding difficulties Early diagnosis is important for management, though treatment remains largely supportive, focusing on treating complications, providing nutritional support, and managing symptoms with medications like anticonvulsants for seizures and bicarbonate for acidosis, as discussed in 2 and 1. Coenzyme Q10, thiamine, and other supplements may be used, though with limited evidence of efficacy, as noted in 3 and 4. It is essential to prioritize the most recent and highest quality study, which in this case is 1, to ensure the most accurate and up-to-date diagnostic criteria for Leigh's disease.