Clinical case of Leigh syndrome in an infant

I.G. Samoilenko, D.S. Khapchenkova, E.V. Tkachenko, Yu.V. Sokolova


The mitochondrial diseases are the group of pathological conditions associated with a deficiency of intracellular energy due to genetic, structural and biochemical defects in mitochondria, clinically occurring with a damage of the central nervous system, the cardiovascular system, the musculoskeletal system, the gastrosintestinal tract. They are the result of nuclear deoxyribonucleic acid (DNA) point mutations, deletions or rearrangements of the mitochondrial DNA. The MELAS (Mytochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes); Kearns-Sayre syndrome (ophthalmoplegia, retinitis pigmentosa, atrioventricular block); NARP (Neuropathy, Ataxia, Retinitis Pigmentosa); MERRF (Myoclonic Epilepsy with Ragged Red Fibres); Leigh syndrome are the most common mitochondrial diseases associated with the damage of the central nervous system, and caused by mutations of specific part of the mitochondrial DNA. The first manifestations of mitochondrial diseases are clinically nonspecific and uninformative. The affection of the nervous system begins from respiratory and neuro distress-syndromes, disorders of mental and static-motor development with the loss of acquired skills and the development of myoclonic convulsions, ataxia, spasticity atony, ptosis and external ophthalmoplegia, dizziness, hemianopsia, stroke-episodes, peripheral neuropathy, paresis in 100 % of observed patients, notes increasing of muscle weakness, occurrence of vomiting and a headache, myalgia, muscle weakness and hypotonia with a muscle atrophy. The incidence of hearing loss in patients with mitochondrial diseases is 70 %. It is also characterized by disorders of the vision: retinitis pigmentosa, cataract, corneal opacity, optic atrophy. The liver damage manifests in the form of the progressive hepatomegaly, fibrosis and of the liver failure. Endocrine disorders are manifested of the growth retardation and bone age and puberty, hypoglycemia, diabetes insipidus and diabetes mellitus, the growth hormone deficiency, hypothyroidism, hypoparathyroidism, hyperaldosteronism, hypothalamic-pituitary failure. Gastrointestinal disorders are appeared with a vomiting, especially after physical exercises, the сyclic vomiting syndrome, the periodic diarrhea, the pancreatic insufficiency. A diagnostic plan of examining patients with mitochondrial diseases includes: an assessment of physical development, the study of the condition of internal organs, endocrinological examination, analysis of mental, speech and motor functions, the study of neurological status, neurosonography, echoencephalography, electroneuromyography, computed tomography and/or magnetic resonance imaging of the brain, a heart examination, ophthalmological examination, assessment of hearing. The genetic study of the mitochondrial DNA extracted from the blood cells is performed to determine specific mutations in patients with a correct phenotype. Prescription and use of drugs, directed to the energy defect correction, vitamin complexes are mandatory in the treatment of the mitochondrial diseases. Leigh syndrome is a type of the mitochondrial diseases, a progressive neurodegenerative disease. Leigh syndrome predominantly debuts in the early childhood. The most common first manifestations of this disease are disturbance of feeding, recurrent episodes of the unexplained vomiting, refusal of eating, sucking weakness. The neurological disorders are characterized by the gradual beginning, manifested with diffuse muscular hypotonia, loss of previously acquired motor skills, extrapyramidal and cerebellar symptoms. The oculomotor disturbances, bulbar syndrome, dysarthria, seizures, respiratory disorders of central origin, including episodes of apnea and irregular hyperpnoea, are frequent in Leigh syndrome. Leigh syndromes course is steadily progressing, sometimes undulating and leads to death within a few years after the beginning of the disease. The article described own clinical observation of the patient with Leigh syndrome. The first manifestations of this disease, data of laboratory and genetic researches of a child are described.


infants; mitochondrial diseases; Leigh syndrome


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