The review summarizes the data on Noonan-like syndrome with loose anagen hair (NSLH) from the group of RASopathies. The genetic aspects of the syndrome, its pathogenesis, clinical signs, and comorbitant conditions are considered. Particular attention is paid to the differential diagnosis between two genetically heterogeneous types of NSLH associated with mutations in the SHOC2 gene (NSLH1) and in the PPP1CB gene (NSLH2). Clinical case description of the patient with confirmed NSLH1 is presented. This review is intended to increase physicians’ awareness specifically on NSLH genotype-phenotype correlations. This is crucial for genetic counseling, diagnosis, and development of new management and rehabilitation methods.

Subgaleal hemorrhage (SH) is a blood pooling between epicranial aponeurosis and skull bones periosteum. It is a fluctuating mass on the scalp spreading through the cranial sutures. Children with SH may have anemia, hyperbilirubinemia, pain syndrome, and seizures. Newborns with SH may require monitoring and treatment in intensive care unit. Ophthalmoplegia, eyelid ptosis, and visual impairment are possible if SH is spreading to the orbital region. In case of large SH, blood can penetrate below zygomatic arch, thus, the child may have difficulties with breathing, apnea, and soft tissue necrosis. Up to 250–300 ml of blood can accumulate in subaponeurotic space in newborns. Therefore, large SH may lead to hypovolemia, arterial hypotension, coagulopathy, and hemorrhagic shock. Children with SH may have subdural hematomas, cerebellar tentorium ruptures, skull fractures. Mortality rate among infants with SH admitted to intensive care unit is 12–14%. Differential diagnosis should be performed with cephalhematoma and large caput succedaneum. Ultrasound examination allows us to differentiate these conditions, determine further tactics of instrumental imaging and patient management. Neonatologists, intensivists, and pediatricians can master the ultrasound examination technique in children. Small SH can reabsorb on their own within few weeks. Surgical treatment may be required in case of large hemorrhages due to the high risk of complications (suppuration, necrosis, calcifications, and visual impairments).

Inflammatory bowel disease (IBD) in children is a heterogeneous group of chronic diseases characterized by recurrent inflammation of various parts of gastrointestinal tract. Steady increase in the IBD incidence in pediatric population has been noted in recent decades. The most common forms of IBD are Crohn’s disease and ulcerative colitis. IBD diagnosis in children is challenging due to non-specific clinical signs and need for comprehensive examination, including endoscopic, histological, and imaging methods. Modern approaches to IBD management in children are focused on achieving and maintaining remission, preventing complications, and improving patients quality of life. However, despite significant advances in IBD diagnosis and treatment in children, the problem remains topical. This review presents current data on epidemiology, course, and outcomes of therapeutic and surgical strategies in IBD management in children.

Nowadays the only effective method of celiac disease management and preventing its complications is strict lifelong gluten-free diet. Compliance to it can be considerably difficult. This review provides the analysis of updated data on the quality of life (QoL) of patients with celiac disease on gluten-free diet. Significant impact of extraintestinal symptoms on QoL occurring during nutritional treatment was noted. However, the use of QoL assessment to determine the nutritional treatment efficacy in children with celiac disease has not been sufficiently studied. The need for psychological correction and social adaptation of patients with celiac disease is discussed.

Juvenile idiopathic arthritis (JIA) associated uveitis is the most common extra-articular manifestation of JIA. Nowadays, unified approach for the management of this condition has been developed despite all the difficulties in diagnosis. It allows to avoid many long-term complications and improves patients’ quality of life. Rapid development of pharmacotherapy (including appearance of new immunosuppressive and genetically engineered biologic drugs) expands the therapeutic methods and increases the chances in achieving sustained remission. However, still there are many questions regarding genetically engineered biologic drugs safety, optimal time to treatment cessation, and long-term follow-up in patients with JIA. This review summarizes and analyzes modern data regarding treatment approaches, therapy efficacy and safety, and perspectives for managing patients with uveitis and JIA.

Background. Selective dorsal rhizotomy (SDR) is an effective neurosurgical method for reducing spasticity in children with cerebral palsy (CP). The need for other medical (anti-spastic) and surgical treatment methods after SDR remains poorly studied. Objective. Aim of the study is to evaluate the frequency of using botulinum therapy and orthopedic interventions, as well as target muscles selection for injection in patients with cerebral palsy after SDR. Methods. Prospective cohort study included patients under the age of 18 years after SDR performed between January 2021 and June 2023. Frequency, timing, target muscles for botulinotherapy, oral anti-spastic drugs administration, as well as frequency, timing, and type of orthopedic surgeries (year after rehabilitation due to performed SDR) were determined via interviewing (remote or face-to-face) of patients’ legal representatives. Results. The study included data from 107 children with spastic cerebral palsy (GMFCS I — 2, GMFCS II — 14, GMFCS III — 68, GMFCS IV — 22, GMFCS V — 1) who underwent SDR at median age of 5.0 (3.9; 6.9) years. The follow-up period after SDR was 12–41 months, median was 20.8 (16.5; 26.7) months. Botulinotherapy was performed in 24 (22.4%) patients (4 for the first time) after SDR, the initiation period was 1.5–36 months after SDR, the median was 10.7 (6.9; 16.4) months. Injections were performed only in the arm’s muscles in 4 children, only in leg’s muscles — in 10, in upper and lower limbs — in 10, in salivary glands — in 1 case. Orthopedic surgeries were performed in 26 (24.3%) cases 3.5–34 months after SDR, median — 14.8 (8.0; 22.6) months. Procedures on soft-tissues of lower limbs were performed in 17 patients, 9 patients had combined soft tissue and bone surgery. Age at surgery was 3.3–12.7 years, median age — 5.9 (5.0; 8.5) years. Oral myorelaxant administration after SDR (continued) was reported only in one patient. Conclusion. Some patients with cerebral palsy require implementation of other methods for spasticity and orthopedic deformities correction even after SDR due to the child growth.

Background. Von Willebrand disease is a pathology of hemostatic system characterized by deficiency or functional abnormality of the protein involved in blood clotting process. Hemorrhagic syndrome is the major clinical sign for all disease forms. Its diagnosis can be difficult in cases of minimal clinical manifestations. Case presentation. A girl, 9 years old, had complaints on frequent nasal hemorrhages since the age of 3. Adenectomy and tonsillectomy were performed at the age of 7 years. Uncontrollable hemorrhage from the postoperative wound has occurred on the next day, that required fresh frozen plasma transfusion for hemostasis. Family medical history has shown that patient’s mother has long-term heavy menorrhagia, episode of moderate bleeding at the age of 18 after tonsillectomy, episode of bleeding during delivery (stopped by fresh frozen plasma transfusion), and spontaneous ecchymoses. The maternal grandmother had episode of delayed profuse bleeding from alveolar socket the day after dental extraction. No studies to identify hemorrhagic syndrome causes in close relatives were conducted. Examination has revealed deficiency in von Willebrand factor antigen (up to 19%, normal values are 74–111%). Conclusion. Children burdened family history and with/no hemorrhagic syndrome signs and are indicated for laboratory examination to determine the von Willebrand factor antigen, whereas its deficiency or abnormality is one of the most common causes of bleeding disorders in children.

Background. Hypertrophic cardiomyopathy (HCM) is one of the most common causes of sudden cardiac death (SCD) in young adults under the age of 35. SCD may be the first and only clinical manifestation of the disease in children. Case presentation. Female patient with HCM and low risk of cardiac events suffered the first episode of SCD associated with physical activity at the age of 12 years 4 months. Acute myocardial ischemia was suspected due to abnormal coronary arteries, “muscle bridge”, that was the trigger of malignant ventricular arrhythmias leading to cardiac arrest. Implantable cardioverter defibrillator (ICD) was installed for secondary SCD prevention. However, the disease has progressed, and the child suffered two more episodes due to ventricular fibrillation, managed by ICD and resuscitation measures. Drug therapy and ICD regimens were adjusted. Myocardial revascularization was not performed due to high surgical risk. Conclusion. Difficulties in management of patient with HCM complicated with acute myocardial ischemia due to congenital coronary arteries anomaly are presented. Myocardial ischemia is not considered as “large” risk factor for SCD in children (according to traditional evaluation). However, it can be a trigger for life-threatening ventricular arrhythmias and negatively affect HCM prognosis as it has been shown in our observation.

Background. Congenital chylothorax results from abnormalities in lymphatic vessels development and increases perinatal death risk due to lymphatic fluid accumulation in pleural cavity with secondary pulmonary hypoplasia development. Thoraco-amniotic shunting (drain-age of fluid from the chest into the amniotic cavity in intrauterine baby) can increase children survival in such cases. Case presentation. Ultrasound examination has revealed left-side hydrothorax in the intrauterine child on the 22nd week of gestation. Thoracic-pulmonary index (ratio of total lung area to chest area, in percent) was 24.5% (normal values — 41.6 ± 2.5%). Thoracocentesis was performed at 28th week of gestation, 30 ml of straw-coloured liquid was gathered. High triglycerides level (4.77 mmol/L) was detected in the aspirate. Stent for thoraco-amniotic shunt was installed. Thoracic-pulmonary index after stenting was 40%. Second thoracocentesis was performed at 30+3 week of gestation due to non-functioning stent, 70 ml of straw-coloured liquid was aspirated. Pregnant woman had cramping pains in the lower abdomen at 35 weeks and 1 day of gestation. Thoracocentesis was performed before the Cesarean section, 30 ml of chylous fluid was aspirated. Live-born boy was delivered via Cesarean section, body weight — 2617 g, APGAR score — 5/6 points. The child was intubated immediately after birth, respiratory therapy (ALV) was initiated, as well as parenteral nutrition. The child’s thoracic cavity was drained on the left on the 1st day of life, and he was transferred to the neonatal surgery department on the 14th day. Conclusion. Prenatal diagnosis of congenital chylothorax is based on the detection of free fluid in thoracic cavity of intrauterine child starting from the 20th week of gestation. Thoracic-pulmonary index helps us to evaluate the degree of secondary pulmonary hypoplasia. Thoraco-amniotic shunting in utero improves treatment outcomes for congenital chylothorax by reducing lung hypoplasia degree in fetus.

Background. Diagnosis of the mild form of mucopolysaccharidosis type I (MPS I) — Scheie syndrome — can be problematic due to its non-specific manifestations. However, its early detection is crucial for the timely therapy initiation and for improving patients’ quality of life. Case presentation. Boy P. with unremarkable medical history was observed by neurologist due to muscle hypotension from the

first months of life. The child had decrease in body weight after implementation of supplemental feeding at the age of 6 months, thus, they have administered to pediatrician. Further examination has been recommended. He was re-consulted by neurologist due to muscle hypotension, delayed motor development was noted. Enzyme diagnosis (dry blood spots) was performed according to geneticist recommendation: significant decrease in alpha-L-iduronidase activity was detected — up to 0.02 μmol/L (reference values 1.0–25 μmol/L). One-dimensional electrophoresis of urine glycosaminoglycans has revealed dermatan sulfate, heparan sulfate, chondroitin sulfate excretion. The analysis of exon 2 in the IDUA gene was performed via direct automatic sequencing. Previously described pathogenic variant c.208C>T (p.Gln70Term) inherited from child’s father and previously described variant c.250G>A (p.Gly84Ser) inherited from the mother were revealed in compound-heterozygous state. Ultrasound examination of the abdominal organs has revealed gallbladder deformation, echocardiography — paravalvular regurgitation on the mitral and tricuspid valves. Minimal changes in hands, hip joints, and cervical spine were noted according to imaging studies. Conclusion. Early diagnosis of MPS I is crucial for timely therapy initiation and patients’ quality of life improvement. In this regard and considering wide range of symptoms in mild forms of MPS I, it is necessary to increase the awareness of medical workers about this pathology. Moreover, we should introduce a multi-level approach to diagnosis, including both clinical and laboratory research methods.