Protection of children and adolescents’ health is the priority of Russian state policy. An effective minors health care system is crucial for ensuring their well-being, preventing diseases, and forming healthy generation. There were significant changes in the organization of children health care in Russia (including improvement and development of specialized medical institutions) during the period of the XIX–XXI centuries. Particular attention is paid to the health protection of studying and working children and adolescents. This field in the health care system framework has undergone many critical changes during its development. Nowadays the development of medical support system for adolescents undergoing secondary vocational education and working minors has not been completed yet despite many years of work and impressive modifications. Its final development is the priority for the healthcare system as young generation health is the future of the country.

This article presents the results of historical and medical study reflecting the state of children health care in Smolensk during the Great Patriotic War of 1941–1945. The article provides scientifically based evaluation of the situation in Smolensk regarding health condition of children remained on the territories occupied by fascist invaders during the Great Patriotic War, and the organization of children’s health care after the liberation of the occupied regions. We have studied government decrees, medical reports, administrative notes, and other documents from the State Archives of Russian Federation, the State Archives of Smolensk Region, as well as collections of documents, works of pediatricians and organizers of children’s health care who were participants and witnesses of the war, publications of post-Soviet period to cover the issue. The study has revealed that medical help to children of Smolensk was not provided during the occupation (August 1941 – September 1943). All pre-war maternal and infant health facilities were destroyed completely. All types of health care were carried out on a fee basis. Children were not provided with proper nutrition, suffered from hunger and diseases. There were only one children’s hospital for the treatment of children with diphtheria. Outpatient admission was performed by one pediatrician in the only one city hospital. Extremely poor supply in the hospital, gross violations of sanitary and epidemiological regime, spread of severe infectious diseases accompanied by chronic starvation left children with little chances on survival. Children were tortured by “doctors-monsters” in several medical institutions in the city, such as: lethal blood collection to treat Hitler’s soldiers and officers. From the end of 1943, in 1944–1945 health authorities carried out enormous work to organize medical care for children in the liberated areas. As a result, there were no significant mass outbreaks of children infections in Smolensk and other regions despite the harsh consequences of the German occupation.

Background. The hypothesis on correlation between SARS-CoV-2 infection and diabetic ketoacidosis (DKA) development in patients with newly diagnosed type 1 diabetes (T1D) was proposed during the COVID-19 pandemic. The results of testing this hypothesis remain contradictory. Objective. Aim of the study — to analyse the correlation between COVID-19 and clinical characteristics of T1D onset in children. Methods. The study included data from the medical records of patients with newly diagnosed T1D and hospitalized from March 2020 to March 2021. The study group included patients with IgG to SARS-CoV-2 10 U/ml at hospital admission, control group — patients with no laboratory signs of COVID-19. Clinical forms of disease manifestation (hyperglycemia, ketosis, DKA) were recorded among T1D features, as well as DKA severity according to blood pH levels (mild — pH 7.3; moderate — pH = 7.1–7.2; severe — pH < 7.1). Results. The study group included data from 119 children, the control group — 320 with newly established T1D. Both groups were comparable in gender and age. T1D manifested with hyperglycemia in 35 (29.4%) patients, with ketosis — in 41 (34.5%), with DKA — in 43 (36.1%) in the study group; and in 81 (25.3%), 89 (27.8%) and 150 (46.9%) patients in the control group, respectively (p = 0.127). DKA was mild in 9 (20.9%), moderate in 24 (55.8%), and severe in 10 (23.3%) patients of study group; and in 36 (24%), 73 (48.7%) and 41 (27.3%) patients in the control group, respectively (p = 0.747). Conclusion: COVID-19 is not associated with the clinical form and severity of DKA at T1D onset.

Background. Tuberous sclerosis is an orphan disease. Its rare incidence, low awareness of pediatricians, diversity in clinical signs, inheritance features — all together it complicates its diagnosis and requires multidisciplinary approach. The life of any family with a child suffering from tuberous sclerosis can be challenging, such as: diagnosis itself and its acceptance, issues with optimal management, possible disease progression, complications development. Clinical case description. This article describes a clinical case of tuberous sclerosis, as a severe multisystem disease, newly diagnosed in a child at the age of 5 months. Changes in the kidneys were presented as hypodense area in the right kidney parenchyma and were revealed in utero at 20–21 weeks of gestation. Moderate proteinuria (0.25 g/L) was noted in the early neonatal period. Ultrasound examination has shown polycystic kidney disease with multiple small cysts in both kidneys. The child was diagnosed epilepsy at the age of 5 months confirmed by electroencephalography. Brain MRI has revealed primary signs of tuberous sclerosis: cortical tubers, subependymal nodes, subependymal giant cell astrocytoma. It turned out that the girl's father had skin and kidney symptoms typical for tuberous sclerosis according to family medical history. The family was consulted by geneticist, however, parents have refused to perform molecular genetic testing. The diagnosis was clinically established based on the presence of more than two primary signs as well as additional secondary sign (multiple kidney cysts) according to the International Clinical Consensus Conference on Tuberous Sclerosis criteria. Thus, low incidence and phenotype variability in every patient, as well as the refusal to fully examine the child significantly complicates this pathology diagnosis and understanding further prognosis regarding the patient's life expectancy and its quality. Conclusion. The described clinical case demonstrates how difficult it is for the family to adapt to the fact that their child has genetic disease.

Background. Baseline therapy for children with severe atopic dermatitis (AD) is crucial for achieving required clinical effect, regardless the systemic treatment variants. Clinical case description. The boy, 9 years old, had complaints on widespread rashes on the body and limbs accompanied by dry skin and itching and was diagnosed with AD. Topical glucocorticoids, course of local medium wave narrowband phototherapy of 311 nm, topical calcineurin inhibitors were used in the treatment but with weak positive dynamics. Genetically engineered biological therapy was initiated due to frequent relapses and lack of disease control. No persistent improvement was noted after 10 weeks of therapy. The child was hospitalized, cyclic biological therapy was continued, topical therapy was corrected, and skin care was modified, the emollient-plus drug was prescribed. Clinically significant decrease in EASI and CDLQI indices, as well as a decrease in SCORAD and NRS scores was noted 4 weeks after treatment correction and emollients implementation. Conclusion. Emollients are mandatory in the management of children with AD (despite the disease severity) according to clinical guidelines. This clinical case confirms the feasibility of therapy with emollient-plus agents, as it was possible to achieve the correction of epidermal barrier dysfunction and significant clinical effect.

Background. 3-methylglutaconic aciduria (3-MGA), type VIIB is a rare hereditary disease with onset in the antenatal period, extremely severe course, and unfavorable outcome. This form of aciduria has not been previously described in Russian Federation. Clinical case description. Severe neonatal 3-MGA caused by pathogenic allele in the CLPB gene manifested in a newborn child with non-epileptic motor disorders (tremor, myoclonus) along with seizures resistant to therapy, and severe neutropenia. Bacterial infection with pneumonia and chylothorax development was observed. The specific feature of this case is the absence of cataract typical for 3-MGA, type VIIB, but presence of hypoparathyroidism, that was not previously described as the manifestations of this disease. Diagnosis 3-MGA, type VIIB, was confirmed by whole-genome sequencing. Two variants of the CLPB gene (NM_001258392.3) were revealed: HG38 variant (chr11-72301838C>CT, c.1293dup) in heterozygous state leading to frameshift and premature stop codon (p.Asp432Argfs*11), and novel HG38 variant (chr11-72294617T>TA, c.1560+2dup) in heterozygous state leading to changes in splice donors. The child died at the age of 1 month and 6 days despite intensive multicomponent management. Conclusion. Pathological motor activity of the intrauterine child combined with neonatal motor impairment and neutropenia are sufficient basis for whole-genome sequencing to establish etiological diagnosis. The types of 3-MGA inheritance correlate with different disease prognosis, thus, it is crucial to examine proband’s parents to evaluate the risks of sick children birth.

Background. Mucopolysaccharidosis type I (MPS I) is a disease known for over 100 years. Implementation of new management approaches for MPS I requires from doctor to clearly differentiate subtypes of this disease for the effective and rational use of treatment methods. Clinical case description. Girl B. with early MPS I onset during the neonatal period. Symptoms of musculoskeletal system damage were the following: feet adduction and hip joints dysplasia. Further follow-up at the age of 6 months has shown linear growth retardation, umbilical hernia, and exudative otitis. Psychomotor development up to 1 year of age was delayed. Coarse facial features by the age 1.5 years along with orthopedic problems, exudative otitis, and umbilical hernia led to mucopolysaccharidosis diagnosis. The diagnosis of mucopolysaccharidosis type I was established according to clinical findings, enzyme diagnostics (significant decrease in lysosomal enzyme alpha-L-iduronidase activity — 0.26 μmol/l/h; reference values from 1.96), and molecular genetic testing (pathogenic variant c.208C>T (Gln70Ter) in exon 2 and nucleotide variant of unknown clinical value c.1524G>C (p.Glu508Asp) in exon 10 of IDUA gene in compound heterozygous state). Echocardiography has revealed structural changes in the mitral valve and minimal aortic insufficiency. Abdominal ultrasound has revealed signs of hepatomegaly, hydrocalycosis, right-side pyelectasia, kidneys’ sizes lesser than the age norms. Abdominal magnetic resonance imaging has shown simple kidney cysts. Conclusion. The major feature of this clinical case is the complexity of differential diagnosis between the severe form of MPS I, Hurler syndrome, and milder form, Hurler–Scheie syndrome. Molecular genetic testing has revealed the presence of the frequent pathogenic variant c.208C>T (Gln70Ter) in the IDUA gene associated with severe disease course and nucleotide variant c.1524G>C (p.Glu508Asp) with undefined clinical significance, thus, additional examination is necessary. Functional analysis of the novel variant is required to establish its role in protein function. It will help more precisely determine the disease form and predict its severity. Combination of MPS I and polycystic kidney disease in the proband is unique case.

Growing pain is a term describing the phenomenon of benign pain in lower limbs occurring mainly in preschool children in the evening or at night. Growing pain is one of the most common cause of musculoskeletal pain in children. This article presents modern literature data on the pathogenesis, clinical signs, diagnosis, differential diagnosis, and management of patients with growing pain.