Подострый некротизирующий энцефаломиелит. Клинические наблюдения

Abstract

The article describes a rare progressive disease of the central nervous system, hereditary mitochondrial pathology – subacu te necrotizing encephalomyelitis (Leigh syndrome). There is a list of diseases for differential diagnosis: neuromuscular diseases, myasthenia gravis, fatty acids metabolism disorders, organic acidemias, cardiomyopathies, autoimmune multiple endocrine syndrome of type II, and diabetes mellitus. Two cases of clinical observation of lethal Leigh syndrome are described. In the first case, the disease began at the patient’s age of 1 year. Complaints of the lack of support on the right leg, unsteadiness in the sitting and standing position, loss of movements coordination appeared. The girl was repeatedly observed in the hospital, and was treated for celiac disease, viral encephalitis. She was consulted by a geneticist. Frequent mutations of SURF1 gene were revealed. In the second case, the disease