Mitochondrial syndrome in a child

Mitochondrial diseases, and in particular mitochondrial syndrome, which can be manifested by lesions of the central nervous system, heart and skeletal muscle pathologies, are today one of the most important sections of neuropediatrics.

Mitochondria - what is it?

As many remember from the school course of biology, mitochondria is one of the cellular organelles, whose main function is the formation of ATP molecules in the process of cellular respiration . In addition, it oxidizes fatty acids, passes a cycle of tricarboxylic acids and many other processes. Studies conducted at the end of the 20th century have made it possible to identify the key importance of mitochondria in such processes as sensitivity to drugs, aging of cells, apoptosis (programmed cell death). Accordingly, the violation of their functions leads to a lack of energy exchange, and as a result, damage and death of the cell. Especially, these disorders manifest themselves in the cells of the nervous system and skeletal muscles.

Mitochondriology

Genetic studies have made it possible to determine that mitochondria possess a different genome than the genome of the cell nucleus, and disturbances in its functioning are most often associated with mutations occurring there. All this made it possible to identify the scientific direction studying diseases associated with impaired functions of mitochondria, mitochondrial cytopathy. They can be both sporadic and congenital, inherited along the mother's line.

Symptomatics

Mitochondrial syndrome can manifest itself in various human systems, but the most pronounced manifestations are neurological symptoms. This is due to the fact that nervous tissue is most strongly affected by hypoxia. Characteristic features that make it possible to suspect mitochondrial syndrome in the defeat of skeletal muscles are hypotension, inability to adequately tolerate physical exertion, various myopathies, ophthalmoparesis (paralysis of the oculomotor muscles), ptosis. On the part of the nervous system, there may be insult-like manifestations, seizures, pyramidal disorders, mental disorders. As a rule, mitochondrial syndrome in a child is always manifested by a delay in the development or loss of already acquired skills, by disturbances in psychomotorics. The endocrine system does not exclude the development of diabetes, dysfunction of the thyroid and pancreas, stunting, puberty. Lesions of the heart can develop as against the background of pathologies of other organs, and in isolation. Mitochondrial syndrome in this case is represented by cardiomyopathy.

Diagnostics

Mitochondrial diseases are most often found in the period of newborns or in the first years of a child's life. According to foreign studies, this pathology is diagnosed in a newborn of 5,000. For diagnostics, a complex clinical, genetic, instrumental, biochemical and molecular examination is performed. To date, there are a number of methods to determine this pathology.

1. Electromyography - with normal results against a background of pronounced muscular weakness in the patient allows you to suspect mitochondrial pathologies.
2. Lactoacidosis very often accompanies mitochondrial diseases. Of course, only his presence is not enough to make a diagnosis, but measuring the level of lactic acid in the blood after exercise can be very informative.
3. Skeletal muscle biopsy and histochemical examination of the obtained biopsy is the most informative.
4. Good results show simultaneous application of light and electron microscopy of skeletal muscles.

Mitochondrial encephalopathy (Leia's syndrome)

One of the most common childhood diseases associated with genetic changes in mitochondria is Leia's syndrome, first described in 1951. The first signs appear at the age of one to three years, but earlier manifestations are possible - in the first month of life or, on the contrary, after seven years. The first manifestations are a delay in development, weight loss, loss of appetite, repeated vomiting. Over time, neurological symptoms are added - a muscle tone disorder (hypotension, dystonia, hypertonia), convulsions, impaired coordination.

The disease affects the organs of vision: atrophy of the optic nerves develops , retinal degeneration, oculomotor disturbances. In most children, the disease gradually progresses, signs of pyramidal disorders increase, swelling disorders, respiratory function develop.

One of the children suffering from this pathology was Pugachev Efim, whose mitochondrial syndrome was diagnosed in 2014. His mother, Elena, asks for help from all not indifferent people.

Mitochondrial syndrome in a child

Forecast, unfortunately, today is often disappointing. This is due to both late diagnosis of the disease, the lack of detailed information on pathogenesis, the serious condition of patients associated with multisystematic lesions, and the lack of a single criterion for evaluating the effectiveness of therapy.

Thus, the treatment of such diseases is still under development. As a rule, it is reduced to symptomatic and maintenance therapy.