DOI: https://doi.org/10.22263/2312-4156.2016.1.77
Onegin E.V.*, Biardouskaya H.M.*, Domarenko T.N.**, Danilova G.S.**, Motyuk I.N.***
Subacute necrotizing encephalomyelitis. Clinical observations
*Educational Establishment «Grodno State Medical University», Grodno, Republic of Belarus
**Public Health Establishment «Grodno Regional Children’s Clinical Hospital», Grodno, Republic of Belarus
***Public Health Establishment «Grodno Regional Clinical Perinatal Center», Grodno, Republic of Belarus
Vestnik VGMU. 2016;15(1):77-84.
Abstract.
The article describes a rare progressive disease of the central nervous system, hereditary mitochondrial pathology – subacute 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 manifested itself when the patient’s age was 1,2 years. Muscle weakness and hypotrophy progressed. The level of lactate in the blood increased. A heterozygous carriage of 845delCT SURF1 gene mutation was revealed by a geneticist.
These two cases of clinical observation of fatal Leigh syndrome are discussed herein. The combination in the clinical picture of the progressive course of the disease, muscle hypotonia, vital functions disorders, beginning in the first year of life, increased level of lactate in the blood, symmetrical lesions in the region of basal ganglia and the brain stem on magnetic resonance study allowed to suspect a hereditary demyelinization disease of the brain. Leigh syndrome was confirmed with the help of genetic testing. Both cases had a fatal outcome. The cause of death was progressive respiratory and cardiovascular failure. Specific lesions of the nervous system were confirmed at autopsy. There are algorithms of clinical and paraclinical diagnoses.
Key words: children, mitochondriopathies, subacute necrotizing encephalomyelitis, lacticemia, diagnosis, gene SURF1 mutation, treatment.
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