The paper presents the topical problems of lysosomal storage disorders that belong to a group of rare (orphan) diseases. Increased attention in this pathology is primarily due to the emerged possibilities of pathogenetic therapy with genetically engineered enzyme replacement agents to correct metabolic disorders. Emphasis is placed on the high total rate of these diseases, which serves as the basis for proposing their inclusion in a category of diseases to undergo mass neonatal screening. The paper briefly characterizes individual forms of liposomal storage diseases, such as mucopolysaccharides, mucolipidoses, and sphingolipidoses, and presents their treatment options. Particular attention is given to the need for preventing this pathology, by using up-to-date medical genetic counseling methods, which lets us reduce a genetic load for society and a family. 

The paper presents the data available in the literature on the pathogenetic mechanisms of minimal-change nephrotic syndrome and also describes its clinical and histological signs, course, and treatment principles.

The purpose of the review is to systematize data on the use of L-carnitine drugs in childhood. It is relevant to study the age-related carnitine metabolic features in health and disease, the dose-dependent effects of L-carnitine preparations in children, their dosage regimens in terms of the stage of pathological processes and the individual constitutional characteristics of a patient and to develop clinical and laboratory criteria for prescribing and monitoring therapy. 

The high incidence of myocardial hypertrophy poses practitioners a problem in the differential diagnosis and early detection of patients with hypertrophic cardiomyopathy among those with myocardial hypertrophy in order to define treatment policy, to prevent life-threating conditions, and to improve prognosis. The paper presents current approaches to diagnosing hypertrophic cardiomyopathies and molecular genetic studies; 3D echocardiography that allows the accurate measurement of the volume parameters of cardiac chambers; speckle tracking and assessment of left atrial and left ventricular strain as diagnostic and prognostic criteria for the course of hypertrophic cardiomyopathy; cardiac MRI and determination of the volume parameters, myocardial mass, and trabecular pattern of the left ventricle; biochemical parameters of atrial overload (B-type or brain natriuretic peptides) and myocardial ischemia (troponin T), as well as electrocardiographic studies. 

Duchenne muscular dystrophy is the most common form of myodystrophy characterized by muscle weakness and atrophy and a progressive course due to progressive muscle fiber degeneration. Until now, this disease is regarded as incurable. Patients receive only maintenance therapy aimed at improving the quality of life and preventing complications. The article considers the most relevant methods used in the rehabilitation of children with this pathology. It reviews an update on the impact of physical exercises on dystrophin-deficient muscles. Particular emphasis is placed on the need for further investigations to elaborate specific recommendations for medical staff, patients and their families. 

The paper considers whether parasomnia may be associated with emotional and behavioral problems. It gives data on the relationship of impaired sleep duration and integrity to increased emotional responsiveness and lability, high levels of anxiety, and depression symptoms. Whether the clinical symptoms of attention-deficit/hyperactivity disorder, aggression, and academic underachievement are related to sleep disorders, including those in the presence of sleep disordered breathing, restless legs syndrome and periodic limb movement disorder, is discussed. There are data on the characteristic polysomnographic changes detected in the presence of the discussed emotional and behavioral disorders in children. A possible pathophysiological rationale is provided for the found associations. Practical guidelines for examination of children with complaints about emotional and behavioral disorders for possible concomitant parasomnias are substantiated. 

The paper describes a case of a baby with a severe infant form of very long-chain acyl-coenzyme A dehydrogenase deficiency, a very rare genetic disorder. The basis for the disease is a disorder of mitochondrial β-oxidation of long-chain fatty acids. Accumulation of acyl-CoA-derived fatty acids causes a toxic effect on the myocardium and cardiac conduction system, liver, skeletal muscles, and other organs. The development of hypoglycemia is typical. Treatment in the acute period involves the immediately ceased delivery of long-chain triglycerides, the provision of the body with medium-chain triglycerides, and the correction of glycemia. In our observation the baby was born at term with a satisfactory condition in a family with a poor history (the first baby had suddenly died at the age of 3,5 months). The disease manifested itself as bradyarrhythmia and cardiac arrest on day 2 of life. The clinical symptom complex also included hepatomegalia, hypoglycemic episodes, lactate acidosis, and elevated blood levels of cytolytic enzymes and creatine phosphokinase. The diagnosis was suspected on the basis of the high blood values of acylcarnitines (primarily C14:1) and verified by a molecular genetic examination. Syndrome therapy and dietotherapy resulted in the abolishment of the abnormality. At the age of 2 years of life, the infant’s physical, motor, mental, and speech development corresponded to his age although he had mild right-sided hemiparesis. Thus, timely therapy determines the favorable prognosis of the disease even in its severe infant forms. 

The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan) inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classification. The infant form is shown to be most severe, resulting in death from cardiovascular or pulmonary failure generally within the first year of a child’s life. Emphasis is laid on major difficulties in the differential and true diagnosis of this severe disease. Much attention is given to the new pathogenetic treatment — genetically engineered enzyme replacement drug Myozyme®. The authors describe their clinical case of a child with the juvenile form of glycogen storage disease type II (late-onset Pompe disease). Particular emphasis is laid on the clinical symptoms of the disease and its diagnostic methods, among which the morphological analysis of a muscle biopsy specimen by light and electron microscopies, and enzyme and DNA diagnoses are of most importance. The proband was found to have significant lysosomal glycogen accumulation in the muscle biopsy specimen, reduced lymphocyte acid α-1,4-glucosidase activity to 4,2 nM/mg/h (normal value, 13,0—53,6 nM/mg/h), described in the HGMD missense mutation database from 1000 G>A p.Gly334er of the GAA in homozygous state, which verified the diagnosis of Pompe disease. 

The Wilson—Mikity syndrome is a neonatal interstitial lung disease of unknown etiology, which occurs between 1 and 2 months of age and which is characterized by late development of oxygen dependency. The paper gives information on the possible etiological factors, pathogenesis, pathomorphology, and clinical, X-ray, and CT patterns of this rare lung disease. Analysis of 61 cases described in the literature from 1960 to 2008 established the relationship of the manifestations of the syndrome to age and degree of prematurity, as well as disease outcomes. The authors give the results of their observations of 7 patients with Wilson—Mikity syndrome, including the pattern of high-resolution computed tomography. 

Heart rate turbulence is a myocardial electrical instability marker used to stratify the risk of sudden cardiac death. Fifty children aged 7 to 17 years with hypertrophic cardiomyopathy were examined. The survey program included standard electrocardiography, Doppler echocardiography, and 24-hour Holter ECG monitoring. Heart rate turbulence parameters, such as turbulence onset and turbulence slope, were analyzed. According to turbulence onset greater than zero, heart rate turbulence impairment was identified in 5 of the 24 patients included in the survey. The abnormal turbulence slope values of less than 6 msec/RR were found in 3 patients. Both parameters were abnormal in 1 patient. Heart rate turbulence impairment was significantly more common in children with the non-obstructive form of hypertrophic cardiomyopathy than in those with its obstructive form (χ2=3,05; p=0,08). All the children with abnormal heart rhythm turbulence values had one or more major risk factors for sudden cardiac death, which significantly exceeds their rates in the normal heart rate turbulence groups (χ2=7,11; p=0,007). The patients with abnormal turbulence onset values were more often found to have syncope (χ2=3,2; p=0,02). One such patient was recorded to have unstable ventricular tachycardia (χ2=10,56; p=0,001). Our findings suggest that heart rate turbulence is an additional predictor of the unfavorable course of hypertrophic cardiomyopathy in children. 

Cardiopulmonary resuscitation is an integral part of intensive care in children and adolescents with a number of diseases, most commonly with congenital heart disease, critical cardiac arrhythmias, or severe traumas. This procedure can cause a number of complications, most of them are still completely unstudied, and many of them are associated with the underlying disease. We have a unique case report of a 14-year-old boy without any cardiac disease, who underwent extensive resuscitative measures, including closed-chest massage, tracheal intubation with mechanical ventilation, as well as a few electrical defibrillations with transient myocardial injury. 

Objective: to estimate the prevalence and clinical features of acute intestinal infections running with hyperuricemia in children. Patients and methods. A cross-sectional study was conducted in 203 children with acute enteric infections. Group 1 (a study group) included 22 children whose serum uric acid level was above 416 μmol/l and Group 2 (a control group) comprised 120 children with normal uric acid level (120—320 μmol/l). Results. Diagnostically significant hyperuricemia was registered in 10,8% of the children. The etiology of acute infectious diarrhea had no significant impact on the registration rate of hyperuricemia. Gastrointestinal tract damage as gastroenterocolitis more than doubled the risk of hyperuricemia (prevalence ratio (PR)=2,7; CI 1,03—7,2). The presence of vomiting increased the probability of detecting hyperuricemia by 1,6 times (PR=1,6; CI 1,1—2,3). Conclusion. Secondary hyperuricemia occurs more frequently in children aged 3 to 7 years. In our study, it was equally often recorded in both viral and bacterial acute enteric infections appearing as gastroenterocolitis with vomiting, dehydration, and acetonemic syndrome. 

The paper analyzes the efficiency of halotherapy in the health improvement and rehabilitation of frequently ill children. This randomized study included 450 frequently ill children aged 2 to 7 years who went to a compensating-type preschool. Within the year, the children experienced 8–12 episodes of acute respiratory infections, which proceeded with complications in 50–70% of the cases. For 15 years, the children who had been followed up by pediatricians; interferonogenesis was examined, the level of middle molecules was estimated, and specialists’ consultations were given. Halotherapy was proved to have an immunomodulatory effect on frequently ill children. It normalized the homeostatic systems of the children, improved cardiovascular performance, contributed to the body’s higher resistance to respiratory infections, and caused a reduction in overall morbidity in the children. The performed studies were augmented and indications for and contraindications to halotherapy were specified. 

The article describes the results of clinical and laboratory evaluation of the efficiency of using cycloferon, a low-molecular-weight interferon inducer with a wide spectrum of biological effects, in the combination treatment of tonsillar pathology in children. There is evidence that it is expedient and promising to use cycloferon that combines immunopotency and good tolerability, which optimizes sanogenesis and improves the quality of medical aid to children with tonsillar diseases. 

Most cases of atopic dermatitis are caused by allergy to cow’s milk proteins in babies in their first year of life. Dietotherapy with highly hydrolyzed formulas is the basis for timely and adequate medical care to these children. The objective of the open-label multicenter prospective postregistration trial was to evaluate the efficacy of a formula based on the in-depth hydrolysis of whey proteins with the prebiotics GOS/lcFOS 0,8 g/100 ml for infants within their first year of life who received artificial nutrition and suffered from topical dermatitis presumably associated with allergy to cow’s milk proteins. The trial enrolled 51 babies aged 193,64 (SD 73,95) days with mild and moderate atopic dermatitis (SCORAD<40). Results. During a 4-week dietotherapy cycle, there was abolishment of the skin symptoms of atopic dermatitis (SCORAD 26,66 (SD 9,19) and 6,63 (SD 4,36)) at the beginning and end of the trial and a reduction in the needs for topical glucocorticosteroids, zinc-containing topical agents and antihistamines (p<0,01). The individual visual analogue scale efficiency of the dietotherapy was 8,53 (SD 1,51) and 8,72 (SD 1,20) scores as assessed by the parents and physicians, respectively. During the dietotherapy, the physiological rate of defecations was 1,88 (SD 0,94) times/day, the characteristics of stool significantly improved. The average daily formula intake was 786,13 (SD 169,21) ml. Weight-for-height in all the infants was in the normal range. Conclusion. The test formula is well tolerated and effective in more than 90% of the infants with atopic dermatitis presumably associated with allergy to cow’s milk proteins and ensures a child’s growth and development. 

Nutrition is of particular importance in young children who are characterized by exceptionally high growth rates in conjunction with scare resources of nutrients in their body. The physiological features of infants suggest that this active life period in the child requires adequate attitude towards his nutrition that largely differs from that during the first year of life. The paper considers the issues of organizing the nutrition of children aged 1 to 3 years, by using commercial infant dairy products — new combined products — sterilized milk- and fruit-milk-based desserts and milk cocktails for infant feeding.