Background. Alpha-mannosidosis is a rare hereditary disorder belonging to the group of lysosomal storage diseases, characterized by a wide spectrum of clinical manifestations, including hearing impairment, which is often one of the first symptoms. The mixed nature of hearing loss, along with the polymorphism of the clinical presentation, contributes to diagnostic difficulties. The aim of this study is to analyze case series to raise awareness among physicians about alpha-mannosidosis.

Case series: Two case reports of type 2 alpha-mannosidosis in children are presented. In the first case report, a 3-year-5-month-old girl with psychomotor developmental delay and a specific phenotype was diagnosed with bilateral severe hearing loss. An interdisciplinary approach and the vigilance of an audiologist allowed for timely biochemical and genetic diagnostics (a homozygous pathogenic variant c.2248C>T in the MAN2B1 gene was identified) and the initiation of enzyme replacement therapy at the age of 3 years 10 months. In the second case report, diagnosis was delayed in two sisters born from a consanguineous marriage: hearing impairment and speech development delay were identified late, hearing aids were provided with a delay, and low compliance was noted. Large deletions in the MAN2B1 gene were genetically confirmed. The late initiation of treatment and the age of primary hearing aid fitting resulted in a lack of significant positive dynamics in auditory-verbal development.

Conclusion. The presented case series highlight the critical importance of early diagnosis of alpha-mannosidosis. “Unexplained” mixed or sensorineural hearing loss, especially when combined with psychomotor developmental delay, dysmorphic facial features, and recurrent otitis media, requires the exclusion of lysosomal storage disorders. Timely interdisciplinary examination, including assessment of lysosomal enzyme activity, enables diagnosis verification and initiation of pathogenetic therapy, thereby improving the disease prognosis.

Background. Fever of unknown origin (viral or bacterial) always presents diagnostic challenges for pediatricians, as it can accompany various conditions. Typically, when searching for the causes of fever, only infectious and somatic causes are considered, forgetting that it can be a manifestation of adverse drug reactions of drug products (DP). Our case report demonstrates an example of druginduced fever that occurred during teicoplanin therapy.

Case report: A 13-year-old boy was examined in the pediatric diagnostics department due to the presence of fever and cytopenia. During the diagnostic process, common causes of fever—viral and bacterial infections—were ruled out. Considering the absence of “red flags” (severe weakness and lethargy, refusal to eat, breathing difficulties, focal and meningeal symptoms) in the patient’s condition, and the fact of prolonged hospital therapy, the hypothesis of a drug-induced fever associated with teicoplanin use was considered and subsequently confirmed. After discontinuation of the drug, all symptoms resolved spontaneously and did not recur.

Conclusion. When conducting a differential diagnosis for the causes of fever, it is crucial to remember that fever can be caused by iatrogenic factors, such as the usage of certain DP. Polypharmacy and irrational prescription of DP are risk factors for the development of such reactions. Adherence to the principles of rational pharmacotherapy can help avoid such “human-made” complications in patient treatment.

This article presents the analysis of literature data on the quality of life (QoL) of children with chronic diseases and with scleroderma in particular. The findings suggest that both physical and emotional state of chronically ill children are impaired. It has been noted that the study of QoL in pediatrics reflects crucial area: comprehensive evaluation of treatment, rehabilitation, preventive measures, and health measures efficacy. QoL assessment feature was demonstrated indicating the need for additional conclusions for parents, doctors, and immediate circle. Description of QoL indicators for children with scleroderma (that allow to assess health state, therapy efficacy, and disease prognosis); QoL questionnaires; predictors of QoL decline are given.

In recent decades, arterial hypertension (AH) in children has acquired the status of a significant global health problem, with its prevalence steadily increasing. Early detection and accurate diagnosis are crucial, as elevated blood pressure (BP) in childhood is closely linked to the risk of cardiovascular, renal, and neurological complications in adulthood. A significant step forward has been the introduction of ambulatory blood pressure monitoring (ABPM), which allows for identification of white-coat and masked hypertension, as well as more accurate patient stratification. Etiologically, AH in children is divided into primary and secondary forms. The primary form is more often associated with obesity, genetic predisposition, low physical activity and high sodium intake. Secondary form is often caused by kidney, cardiovascular and endocrine disorders. It should be emphasized that hypertension is often asymptomatic in childhood, highlighting the need for regular screening starting at 3 years of age, and even earlier for children at risk. Management is based on a stepwise approach. Non-drug measures are of primary importance — dietary correction, increased physical activity, and normalization of body weight. If these measures are insufficiently effective, pharmacotherapy with angiotensin-converting enzyme inhibitors, angiotensin receptor blockers, calcium channel blockers, or thiazide diuretics is prescribed, with individualization of target BP levels depending on age and comorbidities. Given the limited data on the long-term safety of antihypertensive drugs in pediatrics, prevention and early lifestyle modification remain priority areas.

Inflammatory bowel diseases (IBD) represent a group of chronic relapsing disorders of the gastrointestinal tract and include ulcerative colitis and Crohn’s disease. These conditions are characterized by inflammation of the intestinal wall and lead to intestinal symptoms such as abdominal pain, diarrhea, and abnormal stool contents, as well as frequent extraintestinal manifestations, including endocrine disorders, musculoskeletal involvement, and lesions of the skin and its appendages. At present, a polyetiological concept of IBD development is widely accepted. The pathogenesis is primarily driven by an idiopathic autoinflammatory process involving both innate and adaptive immune responses, against the background of which alterations in the qualitative and quantitative composition of the gut microbiome, impairment of the intestinal barrier function, and genetic predisposition make a significant contribution. Among extraintestinal manifestations of IBD, particular attention is paid to endocrinopathies, including disorders of the thyroid and pancreas, growth disturbances, and abnormalities of mineral and carbohydrate metabolism. The incidence of IBD is increasing in the pediatric population, which underscores the need for early diagnosis and awareness of age-specific clinical features. Of particular interest are perinatal risk factors for IBD, such as mode of delivery and gestational age, exposure to antibacterial therapy during the perinatal period, maternal passive smoking, and maternal age, which may indirectly influence the development of the child’s microbiota and immune response. IBD and celiac disease share a common genetic predisposition and similar immune-mediated pathogenic mechanisms, including disruption of barrier function, activation of innate and adaptive immunity, microbiome imbalance, and overlapping HLA and non-HLA genetic variants. Both conditions are characterized by comparable extraintestinal manifestations, such as endocrinopathies, delayed physical development, and pancreatic involvement. However, in childhood, data on the specific features of endocrine disorders associated with IBD and celiac disease, as well as on factors contributing to their development, remain limited.