"T2: high signal 3,10,11,13,18"
"T1: usually demonstrates reduced signal in regions of T2 high signal, although some areas of hyperintensity can be seen, as can some enhancement post-gadolinium administration"
"DWI: in the acute setting high diffusion signal may be evident (so-called 'stroke-like' lesions)"
"T1: usually demonstrates reduced signal in regions of T2 high signal, although some areas of hyperintensity can be seen, as can some enhancement post-gadolinium administration"
"MT-ND genes (e.g. MT-ND5) which encode for complex I"
"reduced NAA"
"Wernicke encephalopathy"
"Leigh syndrome, also known as subacute necrotising encephalomyelopathy (SNEM), is a mitochondrial disorder characterised by progressive neurodegeneration, mitochondrial dysfunction, and bilateral central nervous system lesions, that invariably leads to death, usually in childhood."
"There is no disease-modifying therapy available 10,18, although a 'mitochondrial cocktail' is often prescribed, variably consisting of components such as thiamine (vitamin B1), coenzyme Q-10, riboflavin (vitamin B2) and vitamin C 14,15,18. Generally, medications which are mitochondrial toxins (e.g. sodium valproate) should be avoided 15."
"Leigh syndrome is rare, encountered in approximately 1 in 40,000 births, although some populations have much higher incidence (e.g. in Quebec in Canada) 9. There is no known gender or racial predilection 9."
"There is no disease-modifying therapy available 10,18, although a 'mitochondrial cocktail' is often prescribed, variably consisting of components such as thiamine (vitamin B1), coenzyme Q-10, riboflavin (vitamin B2) and vitamin C 14,15,18. Generally, medications which are mitochondrial toxins (e.g. sodium valproate) should be avoided 15."
"Less commonly, there is involvement of organs beyond the central nervous system, including cardiac, gastrointestinal and renal manifestations 11,13. Hypertrichosis has been described in some patients specifically with a SURF1 mutation 18."
"History and etymology"
"other mitochondrial disorders (e.g. MEGDEL syndrome)"
"toxic encephalopathies (e.g. carbon monoxide poisoning)"