Backdround. Mitochondrial DNA depletion syndrome (MDDS) hepatocerebral type is an inherited disease that is inherited in an autosomal recessive type and is associated with a malfunction of the mitochondria. Progressive impairment of vital functions, metabolic and coagulation disorders characteristic of this disease, most often lead to death. At the moment, there is no pathogenetic treatment.

Case report. A child born at 39 weeks of gestation from a closely related marriage had metabolic acidosis, hypoglycemia, hemorrhagic syndrome with acute liver failure from the first day of life, which subsequently led to death at the age of 17 days of life.

Conclusion. The main clinical and laboratory signs are described, on the basis of which the presence of mtDNA depletion syndrome can be assumed. A molecular genetic examination has been carried out, which makes it possible to diagnose this disease in a child with a high probability and will give parents the opportunity for further more thorough examination, prenatal counseling and planning of the next pregnancy .

Background. One of the causes of early neonatal death in Russia and the world is infection. In recent years, in our country, the infectious diagnosis in 16–25% of cases was the main one among newborns who died in the first 168 hours of life. According to population studies from different countries, the cumulative incidence of neonatal sepsis is 22 cases per 1,000 live births, and mortality ranges from 11 to 19%. According to the data, timely diagnosis and appointment of etiotropic treatment, in most cases of antibacterial therapy (ABT), are crucial in the outcome of neonatal infection. However, in the Russian Federation, as in most other countries, there are no uniform protocols and Guidelines on this issue. Thus, the only solution to this problem is to create local protocols based on modern evidence base and at the same time corresponding to the microbial flora and logistical capabilities of a particular medical organization. The article presents the local protocol of the Yekaterinburg Clinical Perinatal Center (ECPC) “Protocol of observation, examination and antibacterial therapy of newborns with suspected and/or confirmed neonatal infection”, developed by the staff of the ECPC taking into account international conciliation documents, data from randomized clinical trials and meta-analyses, as well as the specifics of the perinatal center.