Leigh's disease
The Leigh syndrome (English: Leigh 's disease ), also known as Crohn's Leigh subacute necrotizing encephalomyopathy or as, is an inherited disease that belongs to the group of so-called mitochondrial disorders. When Leigh syndrome is a malfunction of the mitochondrial energy metabolism. Many cascades are involved, especially the pyruvate dehydrogenase and the cytochrome c oxidase in the mitochondrial respiratory chain. The mode of inheritance may be autosomal recessive, X -linked recessive or maternal.
Pathology
The finding is similar to a Wernicke 's encephalopathy, as spongy degeneration and necrosis occur in the basal ganglia, cerebellum, and brain stem, as well as proliferation of capillaries and glia in the region of the optic chiasm, nerve and optic tracts.
Clinic / symptoms
The symptoms in subacute necrotizing encephalomyopathy is highly variable and depends inter alia on the affected brain region. Already in the first year of life many of the following symptoms may occur:
- Epileptic seizures
- Muscle weakness / paralysis
- Hypotension
- Swallowing difficulties (special needs)
- Eye symptoms ( nystagmus, eye muscle paralysis)
- Respiratory disorders
- Developmental delay
Diagnosis
- Blood: elevated lactate and pyruvate
- Cerebrospinal fluid and urine sample
- Muscle biopsy: Detection of Ragged -Red Fibers
Forecast
The prognosis is poor. The life expectancy is only a few years.
Experts hope that soon a therapy with sirolimus is possible, which should mitigate the fatal mitochondrial something. At least in the mouse model was slowed the progression and the survival time can be increased.
Veterinary medicine
Even in animals the one occurring in humans Leigh syndrome largely identical and the same name disease has been described. So far, it has been demonstrated in Yorkshire Terriers and Alaskan Huskies. In these dogs, the Leigh syndrome was after onset fatal within a year.
History of Medicine
The first description of the syndrome comes from 1951 and was written by Denis Archibald Leigh, a neuropathologist and psychiatrist from the UK. He described a 6.5 year old boy with rapidly progressive developmental disorder, who died within half a year. In the brain, the boy's a disease focus with necrosis and a proliferation of capillaries ( capillary proliferation) was detected in the brain stem.