PANS, or Pediatric Acute-onset Neuropsychiatric Syndrome, is characterized by the sudden onset of obsessive-compulsive syndrome and accompanied by anxiety, emotional lability and other symptoms. PANDAS, or Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections, is a subtype of PANS. Modern data on PANS/PANDAS etiology, pathogenesis, diagnostics and management is presented in this article. Therapeutic decisions on using anti-inflammatory and immunotropic therapy including non-steroidal anti-inflammatory drugs, glucocorticoids, intravenous immunoglobulin, plasmapheresis, rituximab and mycophenolate mofetil are analysed.

Immune inflammation regulated by CD4+ cells (T cells type 2) is integral to the pathogenesis of most cases of bronchial asthma (BA). However, not all mechanisms of chronic inflammation in BA are studied well enough. More recently the role of periostin (extracellular matrix protein) in development of eosinophilic inflammation and airway remodeling at BA has been revealed. The effect of periostin on BA course and development can be confirmed by its high expression in bronchial epithelium of patients with BA. This review shows current data on periostin structure and synthesis, correlation between periostin and BA course and development and pulmonary function test. Special attention is given to the periostin role in BA in children.

Background. Cardiac involvement in patients with mucopolysaccharidosis (MPS) type I, or Hurler syndrome, has various phenotypes.

Clinical Case Description. In the first case symptoms were indicative of acute severe heart failure which was confirmed by laboratory and instrumental diagnostic methods. Left heart chambers dilatation and left ventricular hypocontractility were revealed on echocardiography. Atypical disease course with no improvement on multicomponent therapy of heart failure let us to think about metabolic disease, so we confirmed it with tandem mass spectrometry and molecular genetic testing. Therefore this led to timely enzyme replacement therapy onset and allogeneic bone marrow transplantation that positively affect the disease outcome. The second case showed classic course of MPS I. Its clinical signs such as musculoskeletal and ENT-organ manifestations allowed us to diagnosis and later confirm it by tandem mass spectrometry and molecular genetic testing at the age of 3. The cardiac pathology presented by mitral valve leaflets thickening and 2nd degree regurgitation has been diagnosed later. In our view, early treatment onset should slow down the progression of heart damage.

Conclusion. Several clinical variants of cardiac pathology at MPS I are presented. The need of constant cardiovascular system monitoring in children with MPS I is shown. It is also mentioned that cardiac pathology can be the first manifestation of the disease.

Background. Acute intestinal infections (AII) caused by Shiga-like toxin-producing Escherichia coli and accompanied by hemolytic uremic syndrome (HUS) development are characterized by rapid progression and poor prognosis. Bloody diarrhea (hemorrhagic colitis) requires timely medical treatment both at young age and at adolescence. The severe course of HUS affected by AII caused by enterohaemorrhagic Escherichia coli requires additional medical attention and timely renal replacement therapy (hemodialysis).

Clinical Case Description. The description and analysis of the severe course of HUS affected by AII in 14 years old adolescent girl is presented. There were some difficulties during diagnostics and thus the pathogenetic therapy onset was delayed. Differential diagnosis between typical and atypical HUS was performed. The disease was characterized by rapid progression of acute kidney injury, cerebrovascular disease and ischemia, multiple organ dysfunction syndrome and disseminated intravascular coagulation resulting in fatal case.

Conclusion. Atypical HUS is the most frequent cause of multiple organ dysfunction syndrome alongside with acute kidney injury. The challenges of early diagnostics of atypical GUS in childhood are not fully solved nowadays and require additional attention of pediatricians. The clinical case of atypical GUS complicated by intestinal infection caused by enterohaemorrhagic Escherichia coli is described in this article. The severity of the disease course was due to the early manifestation of extrarenal symptoms and multiple organ failure.

Background. Colchicine-resistant cases of familial Mediterranean fever (FMF) are associated with high risk of kidney amyloidosis and severe episodes of the disease with pyretic fever, arthritis, pleurisies, pericarditis. It is difficult to achieve disease control in colchicine-resistant patients and it is required to use genetically engineered biologic drugs.

Clinical Case Description. The observation of the family with severe course of FFL is presented. The successful use of canakinumab (monoclonal antibody to interleukin-1) in sisters with colchicine-resistant form of disease is described. Fever, articular and abdominal syndromes were completely reversed after 4 weeks of treatment as well as normalisation of laboratory tests was noted. Laboratory indexes of disease activity (erythrocyte sedimentation rate and C-reactive protein level) have stayed in reference ranges after 32 weeks of therapy, no new episodes of the disease were recorded. There were no adverse effect on the canakinumab therapy during the observation period (32 weeks).

Conclusion. The high canakinumab efficacy in patients with severe colchicine-resistant forms of FMF is shown.

Background. Measles is a highly contagious viral infectious disease with airborne transmission. European countries has registered an increased incidence of measles during the period of 2018-2019 followed by the increased risk of epidemiological situation aggravation in Russia. Cases of measles in Russia are recorded mainly among unvaccinated persons who have refused to vaccinate, who have not been vaccinated due to medical contraindications and among homeless people.

Clinical Case Description. Clinical case of the unvaccinated child with measles is presented. The disease had a severe course with a long-term fever, significant toxic syndrome and development of one of the most frequent complication — acute laryngotracheitis.

Conclusion. The importance of implementation of prophylactic measures for prevention of measles emergence and spreading is specified, and the main approach is immunization of the population.

Background. When hydrogel granules enter into gastrointestinal tract (GIT) they start to adsorb water, increase in volume and can cause obturation intestinal obstruction. Early diagnostics of intestinal obstruction in such cases can be difficult due to the lack of information about hydrogel granules swallowing. The choice of management in such patients is also pretty tough.

Clinical Case Description. Three clinical cases are described. First one (5 year old girl) shows the results of conservative removal of hydrogel granules from the intestine 8 hours after their swallowing. The second and third clinical cases demonstrate the difficulties of obturation intestinal obstruction diagnostics in the result of hydrogel granules increasing in volume. Surgical management was required in these two cases.

Conclusion. Conservative management preventing development of obturation intestinal obstruction is the method of choice for removal of foreign bodies during the first day after hydrogel granules swallowing. The surgical management with complete removal of hydrogel granules from GIT is required, if the child resorts to hospital with intestinal obstruction symptoms.

Local glucocorticoids (GCs) are the gold standard of anti-inflammatory topical therapy. The description of the main pharmaceutics properties and classification of local GCs, as well as its indications and contradictions are presented in the article. This article also provides fundamentals for application of local GCs which should be implemented for effective and safe use of these drugs in children. The problems of steroid-phobia (one of the reasons of the wrong and untimely administration of local GCs) are discussed. Advantages of 0.1% methylprednisolone aceponate (new generation GCs) use are discussed. This medication has optimal efficiency/safety ratio and unique bioactivation pathway that enables its effective administration in management of various dermatitis in children from 4 months of age. Results of different comparative and double blind placebo-controlled clinical trials of 0.1% methylprednisolone aceponate administration are discussed in this article. High efficiency and safety of this medication are noted. The use of modern local GCs at the first signs of skin inflammatory changes allows to relieve aggravation quickly and achieve remission of the disease.

Epidermal barrier is one is one of the most important structures of the skin, it performs protective function, ensure internal environment constancy by selective ions and molecules transport and by transepidermal water loss regulation. The biochemical basis of the epidermal barrier consists of complex, integrated and balanced molecular processes leading to keratinocytes death due to terminal differentiation and plasma membrane replacement with horny insoluble macromolecular stratum corneum. Filaggrin and tight junctions (TJs) proteins are important structural components of the epidermal barrier. Filaggrin, after hydrolysis, maintains pH level, preserves water, protects the skin from microbial agents. Whereas TJs proteins with active expression regulate epidermis permeability and create the barrier for exterior antigens.

Background. Shwachman-Diamond syndrome (SDS) is the rare genetic autosomal recessive disorder with pathogenic variants in SBDS gene. The spectrum of SBDS gene variants in patients with SDS and features of disease course have not been studied before in Russian population.

Objective. The aim of the study was to describe all the variants of SBDS gene and clinical and laboratory abnormalities in children with SDS. Methods. In this prospective study exocrine pancreatic function was estimated by amylase and lipase activity in blood, steatorrhea presence and stool elastase levels during the initial hospitalization. Haematological disorders were analysed by complete blood count. Bone abnormalities were diagnosed via X-ray imaging. Growth delay was established due to anthropometry indicators and percentile curves. Molecular genetic testing was performed with using next generation sequencing and Senger sequencing.

Results. Pathogenic variants in SBDS gene (8 in general) were revealed in 25 (89%) out of 28 children with SDS. The most common variant (in 23 patients, 82%) was с.258+2T>C, and in 18 cases it was in compound heterozygous state with c.183_184delTAinsCT. Two patients had с.653G>A (p.Arg218Gln) variant and for one patient for every of the following variants: c.258+1G>A, c.107delT, с.356G>A, c.297_300delAAGA, c.338C>T. All children with SDS had growth delay, in 11 (39%) cases we revealed bone abnormalities. In blood samples of 24 (86%) children we revealed neutropenia and less frequently anemia and thrombocytopenia. The stool elastase I decreased activity (< 200 pg/g) was revealed in 26 (92%) patients. 21 (75%) children had cytolysis syndrome.

Conclusion. Pathogenic variants of SBDS gene were revealed in majority of Russian children with SDS. The most frequent are c.258+2T>C and c.183_184delTAinsCT variants. Clinical signs of Shwachman-Diamond syndrome manifest since birth with growth delay, steatorrhea and haematological disorders.