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BACKGROUND: Congenital hyperinsulinism (CHI) is a rare life-threatening disease characterised by persistent hypoglycaemia as a result of inappropriate insulin secretion, which can lead to irreversible neurological defects in infants.AIM: To evaluate neurophysiological characteristics of central nervous system in children with congenital hyperinsulinism treated according to the international protocol in Russian Federation.MATERIALS AND METHODS: Our retrospective, prospective cohort study included 73 patients who received treatment for CHI according to the current international protocol at different departments of the Almazov National Medical Research Centre from 2017 to 2022. All patients underwent a comprehensive examination, including electroencephalography (EEG).RESULTS: Among 73 patients with CHI, 35% (23) had focal form of the disease, 65% had non-focal form (49% (39) — diffuse form, 16% (11) — atypical form). All patients with focal form of CHI had a recovery as an outcome.Analysing the EEG data we found that paroxysmal activity was recorded in 23 patients (32%), 50 patients did not have paroxysmal activity (68%). Diffuse changes were observed in 47 patients (64%), whereas 26 patients (36%) were absent of it. By constructing Kaplan-Meier curves we found that the alpha rhythm is formed significantly (p=0.026) earlier in patients with a focal form of CHI.CONCLUSION: CHI patients treated according to the international guidelines in Russian Federation show rather positive neurological outcome. We established that alpha rhythm earliest formation is associated with focal form of CHI.

BACKGROUND: The pentalogy of Cantrell is a rare congenital malformation characterized by five component defects in the anterior abdominal wall, lower sternum, anterior diaphragm, and diaphragmatic pericardium and congenital heart disease. The occurrence of the five features is quite rare. The pentalogy of Cantrell is classified as complete, partial, and incomplete. Few studies have described the successful treatment of neonates with the pentalogy of Cantrell, with even fewer publications about an incomplete defect. CASE REPORT: We report the successful surgical treatment of a newborn boy with an incomplete pentalogy of Cantrell. In this patient, the diaphragmatic hernia was eliminated at the first stage, and a temporary container for umbilical cord hernia was made by suturing the silastic sac to the edges of the defect in the anterior abdominal wall for subsequent gradual immersion of the hernia contents into the abdominal cavity. These steps made it possible to reduce intra-abdominal and, accordingly, intrathoracic pressures, provide favorable conditions for the healing of the diaphragm, and thus stabilize the childs respiratory and cardiovascular systems. Subsequently, the cardiovascular system was examined under more favorable conditions and intracardiac defects were excluded. Moreover, the proposed technique made it possible to safely perform the second stage of surgical correction, i.e., radical plasty of the anterior abdominal wall on day 14 of life with full restoration of the normal anatomical and physiological relationships, by which time the diaphragm and mediastinum had taken their correct topographic position. The literature review provides data from 32 sources. CONCLUSION: The pentalogy of Cantrell is a severe congenital malformation with a high risk of poor outcomes. Reporting of all possible variants of the pentalogy of Cantrell (complete, partial, or incomplete), regardless of the outcome, is important for the accumulation of experience in treating such patients, which by focusing on the clinical situation and the combination of various defects in the pentalogy of Cantrell will improve the strategy and prognosis for this defect.

Introduction. Neonatal ovarian cysts develop in case of hormonal imbalance in the mother-placenta-fetus system. Cystic transformation in the ovary may cause appendage torsion which leads to follicular necrosis and loss of ovarian reserve. Most often, torsion occurs in the utero, but in premature girls- due to the specific hormonal status - the risk of cyst growth and its torsion remains in the postnatal period. Currently, a unified approach to the surgical treatment of neonatal ovarian cysts is absent.Material and methods. In the department of pediatric surgery for malformations in the Perinatal Center of the Amazov National Medical Research Center, 34 girls with ovarian cysts were examined during 2012-2020; 9 of them (27%) were premature. In the presented observation, we faced an ovarian cyst in the fetus of 30 week gestation.Results. The cyst looked uncomplicated, but had the enormous size, so we discussed a possibility to perform an intrauterine puncture. However, due to severe hemolytic disease of the fetus and premature delivery, the intervention was not carried out. By the third week of life, torsion of the cystic-transformed ovary developed; necrosis and self-amputation of the right uterine appendage were revealed intraoperatively. By the age of three months, cystic transformation of the only ovary developed. Timely performed laparoscopic fenestration was organ-sparing. Further follow-up revealed preserved and normally growing single ovary what confirmed the right choice of surgical tactics.Conclusion. Dynamic ultrasound examination of the pelvic organs is indicated to all premature girls, at least once every two weeks (in case of revealed ovarian cyst - weekly). We consider it reasonable to make the laparoscopic fenestration of uncomplicated cysts that have size of 3 cm and more. Newborn girls with ovarian cysts should be under the joint control of pediatrician and pediatric gynecologist for developing an individual follow-up plan.

Introduction. Penile agenesis (aphallia) is an extremely rare congenital defect characterized by the complete absence of the penis in a child with a male karyotype 46XY.Material. The analysis of the literature on keywords in the Pubmed and Medline databases was carried out.Results. The incidence of aphallia is estimated 1 out of 10-40 million newborn boys. Aphallia, in spite of its rarity, is a congenital defect which is thoroughly described in the medical literature. The combination of agenesis of the penis with other congenital anomalies often leads to death in such children. Currently, it is believed that these patients should be left with their genetic male sex, therefore, there is a difficult dilemma of choosing the optimal method and age for creating the neophallus and neourethra.Conclusions. The rarity of the aphallia determines the lack of publications covering the long-term results of phalloplasty in both children and adults.

Posterior urethral valve is the most common cause of infravesical obstruction in male newborns. Spontaneous rupture of the urinary collecting system with urine extravasation is a rare complication in this group of children. We present a case of urinoma in a patient with a posterior urethral valve at 4 weeks of age with renal insufficiency. The transurethral destruction of the valve and evacuation of the urinoma contributed to the restoration of the urodynamics and recovery of renal function. Urinoma is a rare manifestation of this defect, and its significance for predicting the preservation of renal function has not been fully determined yet. Reports about the occurrence of urine extravasation in the posterior urethral valve and studying kidney function in the long-term period can clarify the significance of this spontaneous mechanism of urinary tract decompression.

Introduction. This article describes a clinical case of a pregnant woman with fetal meconium peritonitis and further observation and treatment of the child. Meconium peritonitis, being aseptic intrauterine peritonitis, is a serious disease that requires an integrated approach. Tactics of management the fetus, intrauterine risks and prognosis of survival in this pathology as well as choice of the technique for correcting meconium peritonitis and its complications during pregnancy and after childbirth are discussed.Material and methods. Prenatal ultrasound examination revealed in a male fetus signs of low intestinal obstruction, distortion of bowel loops, calcifications, ascites and polyhydramnios. This case shows that depending on the clinical course of peritonitis the timely performed diagnostics reduces risks of life-threatening complications.Results. Due to the newly developed ultrasound criteria which assess the pathology severity (meconium ascites, compression of the fetal chest cavity, edema and polyhydramnios), it became possible to predict the course of meconium peritonitis. Management of pregnancy, childbirth and neonatal period as well as therapeutic and surgical correction of this severe pathology with further early rehabilitation are described in details.Conclusion. Meconium peritonitis is a pathology in which a timely established prenatal diagnosis is extremely important because it significantly improves prognosis and allows to take adequate steps prenatally for stabilizing the condition of both a fetus and a pregnant woman.

Introduction. Recently, achievements in molecular genetics, imaging techniques (PET/CT), medicamentous therapy as well as in surgical treatment have promoted a better control of hypoglycemia and, consequently, better outcomes in children with congenital hyperinsulinism.Purpose. To specify indications, volume and outcomes of surgical treatment in patients with congenital hyperinsulinism depending on pathology form, differential diagnostics with PET / CT and intraoperative express biopsy.Material and methods. 41 children with congenital hyperinsulinism were operated in the department of pediatric surgery in Almazov National Medical Research Centre (Saint-Petersburg) during 2011 – September 2020. In Group 1, there were 6 children who had standard treatment with subtotal resection of the pancreas (95%). In Group 2, there were 35 patients who had PET tomography with 18-F-DOPA before surgery and intraoperative express biopsy of pancreas tissue. The analyzed patients were operated on in 2017-September 2020. PET tomography with 18-F-DOPA findings revealed that these children had 10 diffuse forms and 22 focal forms; the other 3 children had a disputable picture.Results. After surgery, diffuse form was confirmed in 10 (29%) children; focal form - in 21 (60%) children; 4 (11%) patients had the atypical form which was diagnosed intraoperatively. Of 35 children from Group 2, 33 (94%) had complete hyperinsulinism reversal, significant improvement in their psycho-motor function; however, 10 (29%) of them require insulin replacement therapy with minimal dosages - 8 children with the diffuse form of hyperinsulinism and 2 children with the atypical one. There were no intra- and postoperative complications. 20 (95%) out of 21 children with focal forms recovered completely. The authors also describe problems and peculiarities of urgent histological examination.Conclusion. Thus, partial pancreatectomy in focal forms, subtotal in atypical ones and almost total in diffuse forms allows to cope with hypoglycemia caused by congenital hyperinsulinism.

Introduction. 30-60% of all patients with congenital hyperinsulinism have a delayed psychomotor development, and 15-25% of them have a severe organic brain damage, including epilepsy. The timely diagnostics and intensive care can prevent severe neurological complications. If the conservative therapy is not effective, then the surgical treatment is a need. Objective: To demonstrate features of surgical correction of atypical forms of congenital hyperinsulinism. Material and methods. 11 children with atypical forms of congenital hyperinsulinism were operated on in the department of pediatric surgery in the V.A. Almazov National Medical Center in 2017-03.2019. Results. 2 children demonstrated a complete relief of hyperinsulinism in 9 months (1.5 years) of follow-up; one patient had a significant improvement of his psycho-motor development. Conclusion. Some children with presumably focal forms of hyperinsulinism, by PET-CT findings, may have histologically atypical forms. In the atypical lesion of the pancreas, an intraoperative biopsy dramatically changes the planned volume of pancreatectomy up to almost total removal of the gland.

Introduction. 30-60% of all patients with congenital hyperinsulinism have a delayed psychomotor development, and 15-25% of them have severe organic brain damage, including epilepsy. Timely diagnostics and intensive treatment can prevent severe neurological complications. With the ineffectiveness of conservative therapy, surgical treatment is a necessary alternative. Objective. To define indications for various options of surgical correction of focal forms of congenital hyperinsulinism. Material and Methods. In the Department of Pediatric Surgery of V.A. Almazova National Medical Research Centre, in 2017-03.2019, 14 children with focal forms of congenital hyperinsulinism were operated after analyzing their PET-CT findings; in 2 patients out of them they were doubtful. Results. 13 (93%) patients had a complete relief of hyperinsulinism and a significant improvement in their psycho-motor development. 10 (71%) of 14 children had a complete recovery; 1 (7%) - a significant positive trend. 3 (21%) patients needed insulin therapy with minimal dosages. They all were children with an atypical (mixed adenomatous-diffuse) form of hyperinsulinism. Conclusions. In case of focal lesions in the pancreas, partial pancreatectomy with maximal preservation of healthy tissue, defined by the express biopsy, and with any lesion localization is indicated. For atypical forms, the volume for pancreatectomy dissection is defined individually.

Introduction. Advances in molecular genetics, imaging techniques (PET/CT), medicamentous therapy and surgical treatment in the recent decades have improved hypoglycemia control and , thus, improved treatment outcomes in children with congenital hyperinsulinism. Purpose. To define indications for different techniques of surgical correction in patients with congenital hyperinsulinism depending on the disease form. Material and methods. 23 children were operated on for congenital hyperinsulinism in the department of pediatric surgery in the Almazov Medical Research Center from 2011 till 2018. In 2011-2016, 5 children were operated on by the standard approach which included subtotal pancreas resection (95%). Since 2017, PET tomography with 18-F-DOPA and intraoperative rapid biopsy of the pancreas have been introduced into the curative algorithm. In 2017-2018, 18 children were operated: 6 patients with the diffuse form and 10 - with the focal one. Two more children had controversial outcomes. Results. Fifteen children (83%) had complete hyperinsulinism control and significant improvement in their psycho-motor function. Out of 18 children, 10 (56%) had a complete recovery: among them - 8 (89%) out of 9 children with the focal form of hyperinsulinism and 2 (22%) out of 9 children with the diffuse form. Two children (11%) had a marked positive dynamics. Six patients (33%) needed insulin therapy with minimal dosages - all were children with the diffuse form of hyperinsulinism (6 (67% ) out of 9). Conclusion. Partial pancreatectomy in patients with focal forms or subtotal pancreatectomy in patients with diffuse and atypical forms allow to eliminate hypoglycemia caused by the congenital hyperinsulinism and to prevent damage to the central nervous system in newborns and infants.

IntroductionCongenital hyperinsulinism (CHI) has diffuse (CHI-D), focal (CHI-F) and atypical (CHI-A) forms. Surgical management depends on preoperative [18F]-DOPA PET/CT and intraoperative morphological differential diagnosis of CHI forms. Objective: to improve differential diagnosis of CHI forms by comparative analysis [18F]-DOPA PET/CT data, as well as cytological, histological and immunohistochemical analysis (CHIA).Materials and MethodsThe study included 35 CHI patients aged 3.2 ± 2.0 months; 10 patients who died from congenital heart disease at the age of 3.2 ± 2.9 months (control group). We used PET/CT, CHIA of pancreas with antibodies to ChrA, insulin, Isl1, Nkx2.2, SST, NeuroD1, SSTR2, SSTR5, DR1, DR2, DR5; fluorescence microscopy with NeuroD1/ChrA, Isl1/insulin, insulin/SSTR2, DR2/NeuroD1 cocktails.ResultsIntraoperative examination of pancreatic smears showed the presence of large nuclei, on average, in: 14.5 ± 3.5 cells of CHI-F; 8.4 ± 1.1 of CHI-D; and 4.5 ± 0.7 of control group (from 10 fields of view, x400). The percentage of Isl1+ and NeuroD1+endocrinocytes significantly differed from that in the control for all forms of CHI. The percentage of NeuroD1+exocrinocytes was also significantly higher than in the control. The proportion of ChrA+ and DR2+endocrinocytes was higher in CHI-D than in CHI-F, while the proportion of insulin+cells was higher in CHI-A. The number of SST+cells was significantly higher in CHI-D and CHI-F than in CHI-A.ConclusionFor intraoperative differential diagnosis of CHI forms, in addition to frozen sections, quantitative cytological analysis can be used. In quantitative immunohistochemistry, CHI forms differ in the expression of ChrA, insulin, SST and DR2. The development of a NeuroD1 inhibitor would be advisable for targeted therapy of CHI.

Mesenterial hypoperfusion is one of the main pathogenetic factors of necrotizing enterocolitis (NEC) in infants with ductus-dependent congenital heart diseases. NEC in infants undergoing congenital heart surgery increases mortality and length of hospital stay. NEC is also associated with adverse neurodevelopmental outcome. Optimization of enteral feeding can reduce the risk of gastrointestinal complications. NEC risk factors in infants with congenital heart are of special interest in the literature. This article discusses criteria for enteral feeding initiation and increasing preoperatively and after heart surgery. Enteral feeding protocols of leading cardiac surgical centers are reviewed. Practices to provide high energy and nutrient consumption in infants with congenital heart disease are described.

Congenital hyperinsulinism (CHI) is a severe disease with a high risk of complications including neurological deficit. Persistent hypoglycemia in patients with focal form of CHI can not be managed with medical treatment in 96.4% of cases, what subsequently leads to surgical treatment. Currently, there is a lack of information regarding patients with focal form of CHI. This study is aimed at finding better approaches for diagnosis and treatment of patients with focal form of CHI.To study clinical, genetic and PET/CT findings of the focal form of CHI in Russian group of patients.The observational research included all patients with a histologically confirmed focal form of CHI, who were admitted to Endocrinology Research Centre during the period from January 2008 to January 2019. A statistical analysis of clinical data, genotype, and positron emission tomography (PET) with 18F-dihydroxyphenylalanine (18F-DOPA) was performed. The median follow-up was 18 months.The study included 31 patients with focal CHI (14 boys, 45.2%). All patients had a neonatal presentation of the disease and demanded high levels of continuous glucose infusion to maintain euglycemia. The difference between the age of hypoglycemia presentation and the age of diagnosis ranged from 1 day to 3.9 months. In all cases, diazoxide was found to be ineffective. However, in 9 patients, it was possible to withdraw continuous glucose infusion and maintain euglycemia using octreotide in the preoperative period. A molecular genetic study allowed us to detect diverse pathogenic variants in ABCC8 and KCNJ11 genes in 30 patients. According to PET data with 18F-DOPA, the pancreatic index (PI) varied widely from 1.16 to 3.59. After partial resection of the pancreatic region with insulin hypersecretion, all patients showed complete recovery.The focal form of CHI is a severe condition with high prevalence of neurological complications. For preoperative diagnosis of the morphological form of the disease, it is necessary to conduct genetic analysis and radionuclide studies. Solely evaluation of mathematical parameters in 18F-DOPA PET without taking into account the visual data and the results of genetic analysis does not allow establishing the robust diagnosis. Timely diagnosis, identification of risk factors, and prevention of complications of persistent hypoglycemia are important tasks for clinicians.Обоснование. Врожденный гиперинсулинизм (ВГИ) является тяжелым заболеванием с высоким риском развития осложнений в виде неврологического дефицита. Персистирующие гипогликемии при фокальной форме ВГИ в 96,4% не купируются медикаментозной терапией, что приводит к необходимости оперативного лечения. В настоящий момент имеется дефицит информации касательно характеристик российской популяции пациентов с фокальной формой ВГИ. Исследование данной группы пациентов направлено на поиск возможностей оптимизации диагностики и лечения. Цель: изучение клинических, молекулярно-генетических и радионуклидных особенностей фокальной формы врожденного гиперинсулинизма в российской группе пациентов. Методы. В данное наблюдательное исследование были включены все пациенты с гистологически подтвержденной фокальной формой ВГИ, поступившие в ФГБУ НМИЦ эндокринологии с января 2008 г. по январь 2019 г. Был проведен статистический анализ имеющихся клинических, молекулярно-генетических данных и результатов позитронно-эмиссионной томографии (ПЭТ) с 18F-дигидроксифенилаланином (18F-ДОФА). Медиана продолжительности наблюдения составила 18 мес. Результаты. В исследование был включен 31 пациент с фокальной формой ВГИ (14 (45,2%) мальчиков). У всех пациентов отмечалась неонатальная манифестация заболевания с высокой потребностью в непрерывной инфузии глюкозы для поддержания эугликемии. Разница между возрастом манифестации гипогликемии и возрастом постановки диагноза колебалась от 1 дня до 3,9 месяцев. Во всех случаях было констатировано диазоксид резистентное течение заболевания. Тем не менее, у 9 пациентов удалось отменить непрерывную терапию глюкозой и поддерживать относительную эугликемию при применении октреотида в предоперационном периоде. Проведение молекулярно-генетического исследования позволило обнаружить различные варианты мутаций в генах ABCC8 и KCNJ11 у 30 пациентов. Показатели панкреатического индекса (ПИ) по данным ПЭТ с 18F-ДОФА колебались в широких пределах от 1,16 до 3,59. После частичной резекции участка поджелудочной железы с гиперсекрецией инсулина у всех пациентов наблюдалось полное выздоровление. Заключение. Фокальная форма ВГИ имеет тяжелое течение с высоким процентом развития неврологических осложнений. Для предоперационной диагностики формы заболевания необходимо проведение молекулярно-генетического и радионуклидного исследований. Исключительная оценка математических параметров при проведении ПЭТ с 18F-ДОФА без учета визуальных данных и результатов молекулярно-генетического исследования не позволяет однозначно установить диагноз. Важными задачами представляются своевременная диагностика и лечение заболевания, а также определение факторов риска и профилактика осложнений персистирующей гипогликемии.

The work is based on an analysis of results of treatment of 643 children with gastroesophageal reflux (operations were performed on 69 of them). Methods of anesthesia are described. Conservative treatment was used in correlation with the degree of reflux-esophagitis. Indications to operations were considered to be as follows: hiatal hernias, reflux-esophagitis in children with cerebral paralysis, failure of conservative treatment in the group of children having no anatomical causes of the reflux. A method of surgical treatment is proposed including a combination of fundoplication with the posterior gastropexy and fixation of the esophagus to the diaphragm at a distance of 3 cm from the gastric cuff (43 cases, no recurrences). In patients with a combination of gastroesophageal reflux with the esophagus stenosis resection of the altered portion was made followed by plasty with a colonic transplant or local tissues (10 patients with the diagnosed Barrett esophagus).

The authors saw a rare developmental twin anomaly--heterodelphus. The parasite was an organism devoid of the head, fixed with its thoracic wall an epigastric area to the front wall and the epigastric area of the autosite. Respiration and palpitation of the parasite was not auscultated. The abnormal twins had a single umbilical cord. The surgical division of the conjoined twins was performed in 4 months. The operation and operative findings are described. The postoperative period was hard. At the present time the boy's state is good, he feels well and develops in accordance with his age.

The article presents 42-year experiences with surgical treatment of atresia of the esophagus in 814 neonatals in the St. Petersburg Center of surgery in neonatals. Under analysis are the consecutive periods of work in this field, development and introduction into practice of the methods of surgical interventions, the original Bairov's operation--double esophagostomy--included. Factors responsible for results of the treatment of esophageal atresia are described. Improvement of the methods of treatment has resulted in a possibility mainly to make anastomoses of the esophagus and reduce lethality of neonatals with esophageal atresia from 81 to 7.7%.

Fifty-nine newborn infants with Hirschsprung's disease were treated at the Saint-Petersburg Center of Surgery of Developmental Anomalies from 1978 to 1991. The typical rectosigmoid form was found in 47.5% and a long zone of agangliosis in 35.6% of children. Mortality rate--16.7%. According to the development of enterocolitis, three variants of the course of the disease in the newborns were distinguished. It is shown that the informativeness of the diagnostic methods increases with the growth of the infants, and the final diagnosis of Hirschsprung's disease is best established at the age of over two weeks on the basis of repeated or initially postponed contrast study of the large intestine. Inefficacy of nonoperative treatment conducted for 2-3 days and recurrence of symptoms of intestinal obstruction are indications for operative decompression of the intestine. The performance of one-stage radical operation at the age of about one month is advisable in an uncomplicated course of the disease.

An analysis of the immediate postoperative period in 295 newborns after putting intestinal anastomoses was made. Postoperative surgical complications were found in 38 children who required 47 relaparotomies. Surgical tactics was determined for the complications of the postoperative period as well as the indications for relaparotomy.

The analysis of clinical course of the immediate postoperative period in 295 newborns who had the intestinal anastomosis placed was carried out. In 31 (10.5%) child, a failure of the anastomotic sutures was revealed. A dependence of the clinical course of this complication on manifestations of peritonitis, concomitant diseases and degree of an organism maturity was determined. A difficulty to diagnose the anastomotic suture leakage is shown. The indications for operative and conservative treatment were established. Causes of the complication development were revealed.

A method of prophylactics and treatment of postoperative eventrations in newborns (25 observations), is described. The incidence of this complication was decreased from 2,19% (1960-1971) to 0,95% (1972-1983).

Based upon an experience with treatment of 126 newborns the authors consider the main cause of unfavourable outcomes resulting from the operation proper to be inadequately elevated intraperitoneal pressure. Measures for prevention of this complication are recommended.

The method of treatment of fractures of the cervical part of the vertebral column in newborns with injuries of the spinal cord by cleol extension by the base of the skull is described. The method was successfully used in 17 patients.

Results of the treatment of 334 newborns with anorectal defects are analyzed. Radical operations were performed on 181 children, praeternatural anus was made in 64 children, 37 children were operated upon for other associated defects. Conservative treatment was used in 52 children.