Neurofibromatosis (NF) is a genetic disorder characterized by the development of various types of benign or malignant tumors affecting ether the central or the peripheral nervous systems and manifested also on the skin in the form of “café au lait” spots as well as other signs sometimes. Thus, this disorder requires multidisciplinary approach. The clinical case observed in the Article is no exception.: a patient with coffee-colored spots all over the body from an early age was described with similar familial symptoms in the patient’s father, two brothers. At the age of 4 months old, after the first DTaP vaccination, nystagmus appeared, after the second vaccination - progressive deterioration of vision, and at the age of 3 to 4 years old the hearing loss joined in. For the 6 years the patient was observed by pediatrician, ophthalmologist, otolaryngologist and neurologist and received courses of retrobulbar injections of vascular-metabolic drugs, hardware treatment and physiotherapy with slightly positive effect. The first MR imaging of the brain was performed at the age of 7 y/o when a glioma was detected in the chiasmatic-sellar region. Starting the age of 7 y/o the patient gradually developed and increased hypothalamic obesity with subsequent metabolic complications in the forms of impaired glucose tolerance, hyperinsulinism and insulin resistance, arterial hypertension and non-alcoholic fatty liver disease. At the age of 12 a heterozygous mutation in the NF1 gene (deletion of 4 nucleotides) in exon 5 was detected: c.495_498delTGTT:p.T165fs, which made it possible to establish a diagnosis of NF type 1. This case reflects the multifaceted nature of the disease, the importance of a multidisciplinary approach and its early diagnosis.

COVID-19 pandemic has affected the healthcare systems Worldwide causing not only a redistribution of healthcare resources aimed at combating the pandemic and helping patients who required emergency treatment for COVID-19, but also, to a certain extent, restricting access to consultative and outpatient centers. In addition, due to the fear of contracting an infection, patients delayed seeking qualified and timely medical care, did not go to specialized medical institutions or engaged in self-diagnosis and self-medication, which in its turn has worsened the course of certain diseases or even led to the development of life-threatening conditions. The cancellation of medical appointments, elective procedures and prescriptions as well as concerns about contracting COVID-19 when seeking medical care during the pandemic have all led to delays in diagnosis and timely provision of necessary medical care to pediatric patients. Increase in online consultations has led to a decrease in face-to-face contacts with physicians, which may have contributed to underestimation of the severity of the disease. During any infectious pandemic the social isolation undoubtedly effectively reduces the spread of infectious diseases by reducing social contacts in spite of negative consequences that affect both the healthcare system and public health: a decrease in the quality of medical services due to the redistribution of resources, refusal from seeking medical advice due to patients’ fear of contracting an infection when visiting medical institutions as well as delayed diagnosis of diseases and untimely identification of life-threatening conditions. One of such conditions is diabetic ketoacidosis (DKA). This complication is very common, has the most severe course and has greater risk for future disability and mortality during the manifestation of newly diagnosed type 1 diabetes mellitus (T1D).

For citation: A.I. Asmanov, N.D. Vashakmadze, V.A. Vilensky, V.Yu. Voinova, I.G. Vorontsova, I.S. Dantsev, N.V. Zhurkova, T.N. Kekeyeva, V.M. Kenis, T.T. Knyazeva, T.V. Markova, L.K. Mikhailova, E.V. Nagaeva, P.V. Ochirova, E.E. Petryaykina, A.V. Polyakov, D.A. Popkov, E.A. Putilina, D.A. Reshchikov, I.G. Rybkina, S.O. Ryabykh, M.O. Saghatelyan, L.V. Toropchina, A.N. Tiulpakov. Russian interdisciplinary consensus on achondroplasia (approved by the Expert Council in Jan. 2023). Pediatria n.a. G.N. Speransky. 2023; 102 (3): 151-157. DOI: 10.24110/0031-403X-2023-102-3-151-157.

The article describes the difficulties in diagnosing and treating a large pericardial effusion caused by the autoimmune atrophic thyroiditis with a debut in the form of a myxedema coma in a 7 months old child with Down syndrome. The clinical, laboratory and instrumental picture of a rare complication of a hypothyroidism - a hypothyroid (myxedematous) coma, the epidemiology and comorbidity of Down syndrome, autoimmune thyroiditis and hypothyroidism, manifestation of hypothyroidism with pericardial effusion prevailing in the pathological symptom complex are discussed in the article.

In this article, we report a case of primary hyperparathyroidism (PHPT) caused by ectopic parathyroid adenoma in a child. PHPT is an exceedingly rare disorder in the practice of pediatric endocrinologists and pediatric surgeons; approximately 300 cases have been reported so far. The identification of the locus of the ectopic parathyroid adenomas, as well as its surgical treatment are extremely complex and require a multidisciplinary approach. We used several diagnostic methods, including single-photon emission computed tomography/computed tomography (SPECT/CT), augmented reality (AR) diagnostics, and intraoperative neurophysiological monitoring. Given the fact that such tumors with atypical location are extremely rare, this case might be of interest not only for endocrinologists and surgeons, but also for general practitioners. Key words: parathyroid adenoma, intraoperative neurophysiological monitoring, primary hyperparathyroidism

СЛОЖНЫЙ КЛИНИЧЕСКИЙ СЛУЧАЙ ДИАБЕТИЧЕСКОЙ ГИПЕРОСМОЛЯРНОЙ КОМЫГаряева И.В

7912-13 июня 2021 г. КЛИНИЧЕСКИЕ ХАРАКТЕРИСТИКИ ПАЦИЕНТОВ С ВПЕРВЫЕ ВЫЯВЛЕННЫМ САХАРНЫМ ДИАБЕТОМ 1 ТИПА И COVID

МУТАЦИИ ГЕНА LMNA КАК ПРИЧИНА СИНДРОМАЛЬНОЙ НИЗКОРОСЛОСТИ У ПАЦИЕНТОВ С ПРОГЕРИЕЙ ХАТЧИНСОНА-ГИЛФОРДА И АТИПИЧНЫМ ПРОГЕРОИДНЫМ СИНДРОМОМ 1 Тихонович Ю.В., 2,3 Петряйкина Е.Е., 2 Рыбкина И.Г., 2 Шрёдер Е.В., 1 Золотарева Р.А., 1 Римская А.М., 4 Тюльпаков А.Н. 1 ФГАОУ ВО «Первый Московский государственный медицинский университет им.И.М.Сеченова (Сеченовский университет)», г

КЛИНИЧЕСКИЕ ХАРАКТЕРИСТИКИ ДЕБЮТА СД У ПАЦИЕНТОВ С ПЕРЕНЕСЕННОЙ COVID-19 ИНФЕКЦИЕЙ.ОПЫТ ГОРОДСКОГО СТАЦИОНАРА 1 Лазарева А.Н., 1,2 Тихонович Ю.В., 1 Рыбкина И.Г., 1 Шрёдер Е.В., 1 Гаряева И.В., 1 Дагбы Ч.В., 1 Князева Т.Т., 1 Шимарова А.Б., 1 Рыбанова А.Ю

For the first time in the domestic literature, the article presents a clinical observation of multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19 in the 6-year-old patient with manifestation of type 1 diabetes mellitus (T1DM) in the form of diabetic ketoacidosis. Anamnestic, clinical and laboratory data are presented on the basis of which two life-threatening diseases was diagnosed, as well as tactics of therapy, which made it possible to achieve a positive result. This clinical observation is compared with observations of foreign colleagues. Possible pathogenetic mechanisms of MIS-C and T1DM comorbidity are discussed.

RATIONALE : Continuous subcutaneous insulin infusion (CSII) is an effective method for optimizing glycemic control in children with type 1 diabetes mellitus (DM1). However, the use of CSII does not always result in adequate glycemic control. Telehealth can be applied as one of the methods to improve the effectiveness of treatment. AIMS : To evaluate the use of remote medical support of children and adolescents with DM1 and its influence on glycemic control, quality of life, and incidence of acute complications of DM1. MATERIALS AND METHODS : We conducted a 24-week multi-institutional prospective open-label controlled clinical trial. 180 children and adolescents were included in this study and divided into the following categories: 1) age 8–18 years; 2) DM1 at least 1 year; 3) pump insulin therapy Medtronic Paradigm (Medtronic MiniMed, USA) at least 6 months; 4) self-monitoring of glycemia at least 4 times a day and replacement of the insulin pump infusion system at least once every 3 days; 5) inadequate glycemic control of DM1: the level of glycated hemoglobin (HbA 1c ) 7.5% or higher. Patients were assigned to a remote consultation group (RC; n=100) or a traditional control group (TC; n=80). All patients were trained on the basic principles of DM1 and CSII, and we measured initial HbA 1c , then after 12 and 24 weeks, also registered and analyzed glycemic indicators and daily doses of insulin, evaluated and corrected the treatment. Patients or their parents in the RC group sent pump data via the Internet to the pump insulin therapy center at least once every 2 weeks at home and received treatment recommendations in response. RESULTS : The total number of patients included in the study in all institutions was 180 children at 8–18 years. Patients in both groups did not differ in age, gender, duration of DM1 and CSII, and HbA 1c level. The total amount of remote consultations for all institutions was 949. The decrease in the level of HbA 1c by the end of the study against the initial one was statistically significantly greater in the RC group: 1.17% compared to 0.59% in the TC group (p<0.05). The proportion of patients who reached the target level of HbA 1c (<7.5%) was significantly higher in the RC group (32%) compared to the TC group (12.5%, p<0.05). During the study, the incidence of DKA and severe hypoglycemia in the RC group was statistically significantly lower. CONCLUSIONS : Remote monitoring in children with DM1 resulted in significant improvements in glycemic control (HbA 1c , glycemic variability, and hypoglycemic frequency). The accumulation of evidence on the effectiveness and safety of telehealth in DM should contribute to implementing this approach in practical health care.

BACKGROUND: According to research, only 38% of patients reach glycated hemoglobin targets. It is possible to improve the effectiveness of medical care for children with T1D using modern technologies, including continuous glucose monitoring (CGM). AIMS: To evaluate the effectiveness of outpatient monitoring of children and adolescents with T1D with regular use of professional continuous glucose monitoring. METHODS: The inclusion criteria: age 8−12 years; T1D at least 1 year; insulin therapy by multiple injections of insulin; inadequate glycemic control of T1D: НbА 1с level of 7.5% and higher and / or children and adolescents with frequent episodes of hypoglycemia (usually 4 times a week) or with a history of severe hypoglycemia; signed informed consent. All patients initially and 12 weeks after inclusion in the study conducted a study of the level of НbА 1с , and also performed CGM for 6 days. Based on the results of CGM, glycemia indicators and daily doses of insulin were recorded, treatment was evaluated and corrected, and recommendations for self-monitoring were made. Glucose monitoring was carried 120−144 hours using the blind method iPro2 (Medtronic, USA). RESULTS: In all, 99 children aged 8−18 years were included in the study in all centers. The decrease in the level of НbА 1с by the end of the study was 0.72%, while the proportion of patients who reached the target level of НbА 1с (defined as <7.5%) was statistically significantly higher at the end of the study (15.5% and 2%, respectively; p <0.05). During the study, patients showed a trend towards a decrease in the average level and variability of glycemia by the end of the study, however, statistical significance was achieved only in relation to the average level of glycemia ( p =0.04). Conducted insulin therapy, determined by the average daily doses of long-acting and short-acting insulin, did not statistically significantly change at the end of the study. The frequency of DKA episodes and severe hypoglycemia did not statistically significantly differ from the initial level. CONCLUSIONS: For children with poor glycemic control of T1D, the use of professional CGM is effective in terms of glycemic control and a safe method.