Mitochondrial syndrome in a child

Mitochondrial diseases, and in particularmitochondrial syndrome, which can be manifested by lesions of the central nervous system, heart and skeletal muscle pathologies, today are 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 the ATP molecule 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 reveal 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 brightly these disorders are manifested in the cells of the nervous system and skeletal musculature.

Mitochondriology

Genetic studies have made it possible to determine,that mitochondria have their own genome, different from the genome of the cell nucleus, and the disturbances in its functioning are most often associated with the mutations occurring there. All this made it possible to identify the scientific direction that studies diseases associated with impaired functions of mitochondria, mitochondrial cytopathy. They can be either sporadic or congenital, inherited by the mother.

Symptomatology

Mitochondrial syndrome can manifest itself indifferent 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 allow suspecting mitochondrial syndrome in the lesion 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, a 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 most oftenare 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 one newborn out of 5 thousand. 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.

Mitochondrial syndrome in a child - prognosis

Electromyography - with normal results against a background of pronounced muscular weakness in the patient allows you to suspect mitochondrial pathologies.
Lactic acidosis very often accompaniesmitochondrial 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.
Skeletal muscle biopsy and histochemical examination of the obtained biopsy is the most informative.
Good results show simultaneous application of light and electron microscopy of skeletal muscles.

Mitochondrial encephalopathy (Leia's syndrome)

One of the most frequent diseases of the childage 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 - muscle tone disorder (hypotension, dystonia, hypertonus), convulsions, coordination disorder are added.

The disease affects the organs of vision: develops atrophy of the optic nerves, degeneration of the retina, oculomotor disorders. In most children, the disease gradually progresses, the signs of pyramidal disorders increase, there are disorders of swallowing, respiratory function.

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 more ofteneverything is disappointing. This is due to both late diagnosis of the disease, the lack of detailed information on pathogenesis, the severity of patients associated with multisystem lesions, and the lack of a single criterion for evaluating the effectiveness of therapy.