MERRF syndrome (Myoclonic Epilepsy with Ragged-Red Fibers) was first described in 1980. Subsequently, the disease was identified as an independent nosology.
Kearns-Sayre syndrome - this disease was first described in 1958. Most cases are caused by large mtDNA deletions of 2-10 thousand bp. The most common deletion is 4977 bp. Duplications or point mutations are extremely rare.
Pearson syndrome was first described by N.A. Pearson in 1979. It is based on large deletions in mitochondrial DNA, but they are localized mainly in the mitochondria of bone marrow cells. In most cases, Pearson syndrome occurs sporadically.
Mitochondrial diseases are a large heterogeneous group of hereditary diseases and pathological conditions caused by disturbances in the structure, functions of mitochondria and tissue respiration. According to foreign researchers, the frequency of these diseases in newborns is 1:5000.
In thrombocytopenia with absence of the radius, cow's milk proteins can be considered a kind of allergen causing severe thrombocytopenia with high mortality (60%), which is a consequence of the morphological or functional inferiority of bone marrow megakaryocytes characteristic of this disease. Surgical interventions also become a stress factor causing thrombocytopenia.
Klinefelter syndrome is the most common cause of hypergonadotropic hypogonadism in boys. The frequency of this syndrome, according to different authors, is 1.300-1:1000 newborn boys.
CHARGE association is a symptom complex of congenital defects of the eyeball (coloboma), heart defects, choanal atresia, hypoplasia of the external genitalia and anomalies of the auricle in children with delayed physical development.
The spectrum of congenital defects is very wide and more than 2/3 of these defects are localized in the lower segment of the body (defects of the distal intestine, genitourinary anomalies, pelvic bones and lower extremities).
