Leigh syndrome is an under-recognized inherited neurometabolic and subacute necrotizing syndrome. The symptoms of Leigh syndrome are classically described as beginning in infancy. Symmetrical necrosis areas are located in the brain column and basal ganglion. Severe brain function, visual acuity, muscle tone and respiratory disturbances occur in the course of the syndrome. Until now, treatment is unclear and the patient is dying of severe respiratory failure.
Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M. The incidenceof mito-chondrial encephalomyopathies in childhood: clinical featuresand morphological, bioche-mical, and DNA anbormalities. Ann Neu-rol.2001;49(3):377-83..
DiMauro S., Schon E.A. Mitochondrial respiratory-chain diseases//New. Eng. J. Med. — 2003. — V. 348. — P. 2656-2668.
John MenkesH: Textbook of Child Neurology. 5th Edition. Williams and Wil-kins. - London: 1995. - 850 р.
Leigh D. Sub acute necrotizing encep-halomyelopathy in an infant. J Neuro Neuro-surg Psychiatry. 1951;14-216.
Rahman S., Blok R., Dahl H.H., Danks D.M., Kirby D.M., Chow C.W. Leigh et al. syndrome: clinical futures and biochemical and DNA abnormalities // Annals of neuro-logy. - 1996. - №39(3). - P. 343-351.
Richard Behrman E, Robert Kliegman M, Hal Jenson B, et al.: Nelson’s TextBook of Pediatrics 17th Edition. Saunders Ltd, Pen-nsylvania; 2004:p2027
SintiniM., Della G.E., Mavilla L. MRI patterns ofLeigh syndrome //Riv. Neurora-diol.-1999.- V. 12, Suppl. 2.- P. 101-104.
Tiranti V., Hoertnagel K., Carrozo R. et al. Mutations of SURF-1 in Leigh disease associated with cytochrome C oxidase deficiency//Am. J. Hum. Genet. — 1998. — V. 63. — P. 1609-1621.
Zhu Z, Yao J., Johns T. et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome//Nature. Genet. — 1998. — V. 20. — P. 337-34