Background. To manage maternal and child health services, it is essential to provide relevant data to the decision-making process. The Ministry of Health of the Russian Federation has developed a system of weekly analytical reports on infant mortality based on primary data from information systems, including distribution by regions, causes of death, dynamic series, and integral estimates. The monitoring results are used to implement management decisions that improve the medical care organization in maternal and child health, and to evaluate decision efficacy.

Objective. The aim of the study is to develop a model for analyzing infant mortality to manage the work of obstetric, gynecological, and pediatric services based on primary data.

Methods. Data source on registered deaths under the age of 1 year is the Federal Register of Medical Death Certificates of the Unified State Information System in the Healthcare Sector (FRMDC EGISZ). Data on the number of live births from the Federal Register of Medical Birth Certificates of the Unified State Information System in the Healthcare Sector (FRMBC EGISZ) were also used to calculate the infant mortality rate.

Results. The results of data processing from FRMDC EGISZ and FRMBC EGISZ correlate with monthly data on infant mortality published by Rosstat. The suggested approach allows rapidly analyse infant mortality rates at the regional level, including causes and place of death.

Conclusion. Existing information systems and proven approaches for primary data analysis on birth and death counts make it possible to increase the efficacy of obstetric, gynecological, and pediatric services management, whereas indicators and their calculation frequency can be adapted to health organizers requests.

Background. Mild forms of mucopolysaccharidosis type I (MPS I), Hurler – Scheie and Scheie syndromes, are characterized by late onset and non-specific symptoms. Particularly, the clinically dominant joint may lead to misdiagnosis of rheumatic disease. Case description. Girl S., at the age of 4 years 8 months, has shown limitation in hands' joints movements. Later at the age of 5 years and 1 month symmetrical polyarthritis with damage of large and small joints of upper and lower limbs with contractures was revealed; antinuclear factor was 1 : 160; and juvenile idiopathic arthritis was diagnosed. Then at the age of 5 years 2 months diagnosis has changed to limited form of juvenile systemic scleroderma due to additional symptoms onset: induration and elasticity decrease of hands, forearms, feet and lower legs skin, restriction of mouth opening, gastrointestinal tract lesions (cardia insufficiency, gastroesophageal reflux). Management with antirheumatic therapy (methylprednisolone, methotrexate) resulted in decreased skin density and increased amplitude of joints movements. Clinical features and disease course forced us to continue the diagnostic search. Enzyme diagnostics was performed: decrease in alpha-iduronidase activity to 0.06 μmol/L (normal range 1.00–25.00 μmol/L) was revealed. Quantitative analysis of glycosaminoglycans (GAG) in urine was performed: total GAG level was 20.0 mg/mmol creatinine (age limit 0.8–24.9 mg/mmol creatinine). One-dimensional GAG electrophoresis has revealed increased heparan sulfate and dermatan sulfate urinary excretion. Direct automatic sequencing of exons 2 and 7 of the IDUA gene revealed pathogenic variant c.208C>T (pGin70Term), from the father, and change in the nucleotide sequence c.878_889dup leading to the replacement of p.Thr293_Tyr2, from mother, in compound heterozygous state. The diagnosis of “MPS I, Sheie syndrome” was established.

Conclusion. Pediatricians and pediatric rheumatologists should include molecular genetic methods in the examination protocols for the timely detection of hereditary diseases, particularly mild forms of MPS I, when conducting differential diagnosis in patients with specific articular changes.

Background. Infantile hemispheric glioma (IHG) is a glial tumor (often large sized) that often develops in utero or during infancy. Timely diagnosis is challenging due to its rarity in young children and the variability of its molecular genetic characteristics. Implementation of preoperative and intraoperative neuroimaging allows to remove the most morphologically significant areas of tumor tissue when total resection is not possible, while cytogenetic analysis allows for a definitive diagnosis.

Case description. The child with intrauterine growth retardation has grade 2 cerebral ischemia and movement disorders syndrome. Neurosonography at 13 days of age has revealed large cystic lesion that was not identified as a tumor. An increase in head circumference up to 7 cm was noted at the age of 2.5 months, while neurosonography has shown enlargement of the cystic cavity in the left hemisphere, thus ventriculoperitoneal shunting was performed. Magnetic resonance imaging of the brain has revealed a large cystic and solid lesion in the left hemisphere at the age of 8 months. We used combined neuronavigation to establish the diagnosis and determine treatment tactics: preoperative positron emission tomography with [¹⁸F]fluoroethyl-l-tyrosine combined with computed tomography and ultrasound and fluorescence guidance during the surgery. Tumor cytogenetic analysis was performed and confirmed the glial nature of the neoplasm.

Conclusion. This case shows the complexity of IHG diagnosis and the benefits of preoperative and intraoperative neuronavigation, as well as cytogenetic testing, to establish the final diagnosis.

Background. Pulmonary arterial hypertension (PAH) is a severe, multifactorial, polygenic group of pulmonary-cardiac diseases. The probable causes of hereditary PAH, especially at onset in childhood, are TBX4 (T-box transcription factor 4) gene variants. There are no reports of PAH cases associated with pathogenic TBX4 variants in the Russian Federation.

Case descriptions. 66 children with pulmonary hypertension (PH) of unknown etiology were examined in the Pediatric Cardiology Department of the Veltischev Institute during the period from 2020 to 2025. Pathogenic variants of genes associated with PAH development were revealed in 43 children via whole-genome sequencing. These genes were BMPR2, EIF2AK4, SOX17, SMAD9, ENG, GDF2, ALK1, KCNK3, and, moreover, there were 4 (9%) cases of TBX4 pathogenic variants (frameshift mutations, missense mutation, and one structural variant — microdeletion 17q23.1q23.2). All cases have shown persistent combination of features: 1) respiratory distress in neonatal period requiring  long-term oxygen support, including the development of oxygen dependence, 2) early onset of pulmonary hypertension, 3) cardiovascular manifestations, 4) skeletal abnormalities, 5) psychomotor retardation. Three variants were accompanied by combination of parenchymal lung damage and broncho-obstructive syndrome; patient with microdeletion had chronic bronchitis. Follow-up has shown that specifically respiratory distress and concomitant respiratory failure determine the disease severity. Pulmonary hypertension onset worsens the clinical picture and prognosis. Pulmonary vasodilators efficacy in case of lung damage is limited.

Conclusion. Pathogenic variants in the TBX4 gene lead to phenotype extending clinical manifestations of isolated hereditary PAH. This phenotype can be considered as a syndrome complex of impaired development, interstitial lung disease, manifested by respiratory distress in neonatal period, heart defects, precapillary pulmonary hypertension, skeletal anomalies, and neurodevelopmental disorders. Patients with TBX4 gene mutations require treatment by a multidisciplinary team of specialists. Such patients should be managed by interdisciplinary team of specialists in specialized medical center for patients with pulmonary hypertension.

Background. Congenital periorbital hemangioma is a rare benign tumor that can manifest in fetus as early as II–III trimester of pregnancy. Large tumors may aggravate differential diagnosis with other facial area tumors. Accurate prenatal diagnosis allows timely evaluate complications risks, prediction outcomes, and plan the delivery.

Case description. Ultrasound examination of the fetus at 31 weeks of gestation has revealed a 29  29 mm round tumor with smooth clear contours, homogeneous structure, and moderate echogenicity in the right periorbital area. The tumor involved all parts of the orbit and extended to the facial structures. Color Doppler ultrasonography has revealed blood flow within the tumor in several small foci. The diagnosis of “Congenital periorbital hemangioma on the right” was confirmed by MRI. The male baby was born via vaginal delivery at 38th week of gestation, weight — 3800 g, height — 52 сm, APGAR score — 7/8. The lesion was noted in the right orbital area, rising above the eye, and causing its deformity. The eyelid was closed. The skin over the tumor was cyanotic, no vascular changes were detected. The baby was examined by neonatologist, ophthalmologist, pediatric oncologist, and dermatologist. Eye ultrasound as well as CT scan of the orbital region and brain were performed. The prenatal diagnosis was confirmed, the baby is currently under the care of domain specialists.

Conclusion. In utero periorbital hemangioma in a child is defined (on ultrasound) as uniform structure of rounded shape, medium echogenicity, with presence of blood flow, it must be differentiated with lymphangioma, dermoid cyst, teratoma of the orbit, rhabdomyosarcoma, meningocele, or encephalocele. Magnetic resonance imaging is used to verify diagnosis.

Background. Atypical hemolytic-uremic syndrome (aHUS) is an orphan chronic systemic disease resulting from uncontrolled activation of alternative complement pathway and development of complement mediated-thrombotic microangiopathy (TMA). Its diagnosis can be challenging even in cases with classic signs.

Case description. This study describes clinical case of aHUS in 5 years old child. Disease diagnosis was associated with significant difficulties due to Coombs-positive hemolytic anemia. aHUS diagnosis was established based on recurrent course of TMA with a reduced level of complement C3 component and signs of multiple organ damage. Eculizumab administration led to rapid remission.

Conclusion. aHUS course is progressive and has unfavorable prognosis with no pathogenetic therapy. Its timely diagnosis, mainly based on exclusion of other etiological factors of TMA, allows us to prescribe complement-blocking therapy. Such treatment prevents the development of multiple organ damage and promote stable remission along with supportive therapy.

Background. Hypokalemic periodic paralysis is a rare form of paralysis in children resulting from genetically determined electrolyte disorders. Its diagnosis is complicated due to transient nonspecific symptoms. Case description. The disease onset was at the age of 5 with episodes of muscle weakness and severe fatigue. Later, the number of these episodes has increased. After the surgery child was diagnosed with paralysis of lower limbs (mostly) accompanied by decreased level of potassium in blood serum. Next-generation sequencing, neuromuscular diseases gene panel, has revealed pathogenic variant in the CACNA1S gene (c.3716G>A, p.Arg1239His). The pathological allele was verified via Sanger sequencing in the proband, but not in his parents (de novo mutation). Diagnosis of “Hypokalemic periodic paralysis” was established. The child was transferred from parenteral administration of potassium solutions to oral therapy with KCl (4%) solution. Acetazolamide was added to the treatment regimen, and was subsequently discontinued due to an adverse reaction (persistent metabolic acidosis). Conclusion. Spontaneous paralysis in the patient, accompanied by decrease in serum potassium level, is a reason to suspect hypokalemic periodic paralysis. Administration of potassium medications allows us to prevent any symptoms of disease without reducing patient's quality of life.

Hypophosphatasia (HPP) is a monogenic bone disease caused by alkaline phosphatase (ALP) deficiency due to variants in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNALP). This disease is systemic due to numerous ALP functions, and it affects musculoskeletal (bone demineralization with rickets-like changes, stress fractures, arthralgias, enthesopathies, early tooth loss), respiratory (pulmonary hypoplasia), nervous (pyridoxine-dependent seizures, chronic pain syndrome), and urinary systems. HPP diagnosis is based on the repeat measurements of ALP activity and its blood and urine metabolites levels, evaluation of X-ray changes, and revealing ALPL gene variants. The only effective treatment for HPP is enzyme replacement therapy with asfotase alfa. This review covers disease mechanisms, its clinical signs, diagnosis and management methods. Unusual case study of HPP with atypical stress fractures is presented.