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Introduction. The exact prevalence of benign familial neonatal epilepsy (BFNE) is unknown due to the likelihood of overlooking the disease and not diagnosing the affected patients correctly. The rare autosomal dominant inherited disorder usually occurs within a few days after birth of an otherwise healthy newborn, and disappears after one to four months. Most patients develop no psychomotor deficiencies, nor any other forms of seizures. The disorder is most commonly linked to the KCNQ2 gene, with mutations located on the chromosome 20q13.33 which cause voltage-gated potassium channel changes. This clinically rare condition manifests itself in repeated tonic-clonic episodes of focal and generalized convulsions which are effectively treated with antiepileptic therapy. Case report. We presented a five-day old affected male infant, with genetically proven KCNQ2 gene mutation, in addition to a positive familial history of epilepsy. Seizures did not reoccur after several episodes in the fifth day of life and further psychomotor development of the child proved normal. Conclusion. Neonatal seizures have extensive differential diagnosis. However, BFNE should be suspected when the most common neonatal seizure causes have been excluded, and factors, such as the hereditary factor, in addition to the typical clinical course resembling BFNE, can be observed. Genetic identification of BFNE has resulted in easier and more specific diagnosis of this rare disorder and is therefore the gold standard in its diagnostics.

Congenital adrenal hyperplasia is a disease in which a gene mutation, which is inherited in an autosomal recessive manner, causes a disorder in the synthesis of enzymes that create glucocorticoids, mineralocorticoids, or sex steroids from adrenal cholesterol. The incidence of the classic form of the disease ranges from 1:14000 to 1:18000 births. In the majority of cases, the disease is caused by mutations in the CYP21A2 gene that participates in the synthesis of the 21 Alpha-hydroxylase. Due to the lack of enzymes, the synthesis of cortisol is blocked with the accumulation of sex hormones. The classic form of the disease, or a simple virilizing form in which patients lose salt, is diagnosed in the infant period. In the non-classical or mild form of the disease, with late-onset, patients may be asymptomatic or with a milder form of virilization postnatally. The diagnosis is made based on 17-hydroxyprogesterone levels, in order to determine the deficiency of the 21 Alpha-hydroxylase enzyme. Common complications of the disease are adrenal crisis, hypoglycemia, infertility, and premature entry into puberty. Prenatal therapy is referred to as experimental treatment, while the basis of care is hydrocortisone replacement. In severe forms of the disease, patients are unable to produce enough cortisol in response to stress from gastroenteritis, surgery, trauma, or fever, requiring higher doses of hydrocortisone. In certain cases of genital uncertainty, surgical treatment is necessary. A multidisciplinary team of experts is necessary for adequate surveillance of the disease, in both childhood and adulthood.

The World Health Organization has defined Diabetes mellitus as a disorder of metabolism of various causes, due to lack of secretion and / or action of insulin, with long-term hyperglycemia and altered metabolism of sugars, proteins and fats. Diabetes mellitus is the most widespread chronic non-infectious disease, with an increase in the frequency in childhood that could be the epidemic of the 21st century. The incidence is rapidly increasing in the world, while in the last thirty years in Serbia there has been an increase in the number of patients - especially in the group of small and preschool children. Exposure to the genetic, immune and environmental factors plays an important role in the etiology of the disease, but the underlying mechanisms remain unknown. Weeks before the final diagnosis, weakness, irresistible hunger, weight loss, increased thirst, pronounced diuresis, drying of the mucous membranes, skin pruritus and blurred vision could be present. Inadequate glycemic control and unregulated lipid status of children with type 1 diabetes are compatible with numerous complications and a higher risk of cardiovascular, peripheral vascular and cerebrovascular diseases. The therapy consists of insulin therapy, adequate daily physical activity, a variety of diets, overcoming stressful life situations and maintaining satisfactory metabolic control. By using intensive insulin therapy, the best control of the disease is achieved, while the frequency of possible complications is reduced.

Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants. PDE has been shown to be caused by a defect of a α-aminoadipic semialdehyde dehydrogenase (also known as ALDH7A1 or antiquitin) in the cerebral lysine degradation pathway. Its deficiency results in accumulation of α-aminoadipic semialdehyde (α-AASA), piperideine -6-carboxylate and pipecolic acid, which serve as diagnostic markers in urine, plasma and cerebrospinal fluid of the disease. α-Aminoadipic semialdehyde dehydrogenase is encoded by the ALDH7A1 or antiquitin gene and definite confirmation of diagnosis of PDE is made by genetic analysis. Case report. We present a first patient in Serbia who was diagnosed clinically, biochemically and genetically. We suspected PDE due to drug-resistant seizures in the seventh day of life when we attempted with pyridoxine. Since that time the patient has taken pyridoxine and the seizures have not recured. Our patient had markedly elevated α- AASA in urine while on treatment with individual dosages of pyridoxine. Molecular-genetical analysis identified mutations of the ALDH7A1 (antiquitin) gene. Conclusion. α-AASA is reliable marker to select PDF patient for molecular analysis of the ALDH7A1(antiquitin) gene. Diagnosis is confirmed by molecular- genetical analysis and pyridoxine withdrawal is no longer needed to establish the diagnosis of „definite“ PDE.

Background/Aim. Children with type 1 diabetes typically spend one-third of the day in school and they should achieve the same level of diabetes management there as they do outside the school environment. The aim of this study was to identify problems in diabetes management in children with type 1 diabetes at school according to the perceptions reported by children and parents. Methods. This crosssectional survey was carried out at nine public hospitals in Serbia with a cohort of 6-18-year old children/adolescents. The parents were personally informed about the objectives of the survey and the necessity to involve their children. The self-reporting questionnaire included demographic information as well as some questions that helped to evaluate the general situation of children with type 1 diabetes at school. Results. The obtained results show that not all children test blood glucose levels at school (50% of children in the 6-10- year-old age group and 67.3% in the age group over 11 years) and that not all children receive insulin at school (81.1% vs 18.9%, and 57.7% vs 42.3%, respectively). The frequency of severe hypoglycemia was 2.7% in children and 3.3% in adolescents. A high proportion of teachers did not have diabetes training. Conclusion. This brief report about problems in children and adolescents with type 1 diabetes at school in Serbia indicates what happens in the school setting and suggests how to improve control of this disease and facilitate the complete integration of children with diabetes at school.

Introduction. The prevalence of microalbuminuria (MA), the most important early marker of incipient nephropathy in patients with type 1 diabetes mellitus (T1DM), increases during puberty, the period of exaggerated physiological insulin resistance. Objective. To assess the prevalence of MA and the relationship between MA and metabolic risk factors and pubertal hormones in adolescents with T1DM. Methods. In a cross-section study involving a group of 100 adolescents of both sexes of mean age 14.90±2.18 years and with mean duration of T1DM 5.99±3.64 years, we assessed the presence of MA. In all patients, we determined albumin-to-creatinine ratio (ACR) in two or three morning first-void urine samples in the period up to 6 months. Persistent MA was confirmed in the patients with the finding of ACR rating 2.5-25 mg/mmol in males and 3.5-25 mg/mmol in females in two out of three first morning urine samples. Results. MA developed in 16 (16.0%) patients. Predictors of MA determined by using multiple logistic regression were high HbA1c (OR 4.6; 95% CI 2.1-10.0), higher night-time SBP (OR 1.9; 95% CI 0.8-1.3) and higher insulin dose (OR 62.6; 95% CI 2.3-1678.5). Markers of insulin resistance such as higher body mass index (BMI) which was statistically significantly related to MA (ρ= 0.241, p

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Introduction. The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection) proto-oncogene on chromosome 10. For this codon-mutation carriers, earlier thyroidectomy (before the age of 5 years) would be advantageous in limiting the potential for the development of MTC as well as parathyroid adenomas. Case Outline. This is a case report of 3-year-old boy from the MEN 2A family (the boy’s father and grandmother and paternal aunt) in which cysteine substitutes for phenylalanine at codon 634 in exon 11 of the RET proto-oncogene, who underwent thyroidectomy solely on the basis of genetic information. A boy had no thyromegaly, thyroidal irregularities or lymphadenopathy and no abnormality on the neck ultrasound examination. The pathology finding of thyroid gland was negative for MTC. Two years after total thyroidectomy, 5-year-old boy is healthy with permanent thyroxine replacement. His serum calcitonin level is

INTRODUCTION IPEX syndrome, namely, a hereditary (X-linked) immunodysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and exceptionally severe disease. It develops due to gene mutation responsible for the synthesis of a specific protein (FOXP3), which, by differentiation and activation of regular T-lymphocytic CD4+CD25+, has the key role in the induction and maintenance of the peripheral tolerance of one's own tissue. CASE OUTLINE We present a male infant with classic clinical features of IPEX syndrome, which manifested by the end of the first month after birth, first with type 1 diabetes mellitus and chronic diarrhoea followed by dehydration and disordered development, and then with facial eczema and laboratory signs of thyroiditis without thyroid dysfunction (antithyreoglobulin antibodies 1:5500, antimicrosomal antibodies 1:40). In addition, plasma IgE level was high (517 IU/l), while antibodies to tissue transglutaminase were mildly increased (IgA 7.5 U/ml), and anti-smooth muscle and anti-DNA antibodies were absent. Based on the typical clinical features, as well as the laboratory findings, IPEX syndrome was diagnosed, which was further confirmed by proved IVS7+5G>A mutations in the FOXP3 gene. Therapy with insulin and Pronison, combined with parenteral and semielementary nutrition resulted in the patient's clinical improvement. At the age of 9 months, despite Pronison and hypoallergenic nutrition, the child had a relapse of severe and persistent diarrhoeal disorder followed by dehydration, weight loss and deterioration of general condition. Beside the complete parenteral nutrition, as well as other measures, azathioprine was introduced into the treatment, but without the desired effect. At the age of 12.5 months, due to bacteraemia and disseminated intravascular coagulation as complications, the patient ended lethally. CONCLUSION IPEX syndrome should be kept in mind in all the cases of associated type 1 diabetes mellitus and chronic diarrhoea in male neonates or infants. Although treatment results have still been modest, it is quite certain they will be far better in the near future.

Introduction Haemoglobin saturation is an obligatory oxygen parameter in the assessment of neonatal oxygenation. Although, pulse oximetry is currently one of the major methods in the determination of haemoglobin saturation, capillary blood saturation is still present in the diagnostic process. As well known, haemoglobin saturation value of capillary blood is insufficiently accurate, but not as much as the difference in relation to the values determined by pulse oximetry. Until now published studies have reported that capillary samples are obtained according to a protocol by the principle of free blood outflow, which is practically almost unachievable in the neonate. Objective Determination of the reference values of oxygen saturation (ScO2) and partial pressure (pcO2) of capillary blood by squeezing of the foot. The determination of difference between ScO2 and pulse oximetry (SpO2). Methods In 134 term newborns, we determined SpO2 . Subsequently, we measured the values of ScO2 and pcO2 from the same extremity. While withdrawing a capillary sample, we exerted multiple squeezing of the foot. The mean value of ScO2, pcO2, SpO2 and the difference between ScO2 and SpO2 were determined. Results Mean ScO2 value was 80.5}8.5%, pcO2 was 48.2}11.4 mm Hg and SpO2 was 98}1.9%. The difference between ScO2 and SpO2 values was 17.5}8.6% (t=23.568; p=0.000). Conclusion There is a statistically highly significant difference between the values of ScO2 and SpO2. Having the knowledge of this difference can increase the accuracy of clinical evaluation and further diagnostics. Comparison in up-to-now conducted studies suggests that the squeezing of the foot for obtaining a capillary sample in relation to free blood outflow does not bear any significant influence on the resultant values of haemoglobin saturation. .

Introduction Pseudohypoparathyroidism (PHP) is a heterogeneous group of diseases characterized by end organ unresponsiveness to parathormone (PTH), due to receptor or postreceptor defects. The characteristic biochemical disturbances include hypocalcaemia, hyperphosphataemia and high serum parathormone levels. Case outlineWe present a 17-day old male baby who was brought to our hospital because of seizures. He was found to have hypocalcaemia, hyperphosphataemia and an elevated serum level of parathyroid hormone. The diagnosis of PHP was based on the elevated serum level of PTH during hypocalcaemia and persistence of normocalcaemia after administering alphacalcidiol with oral calcium. After 4 months of therapy, with tapering of the oral calcium doses, the treatment was discontinued. During the following six months without therapy, the infant did not have seizures and the serum levels of calcium and phosphorus were normal, so we established the final diagnosis of transient neonatal pseudohypoparathyroidism. Conclusion At the time when the newborn was diagnosed to have PHP, there was no indication whether it was of a permanent or transient form. A considerably lower number of patients have a transitory form of PHP, which is then confirmed in the infant period by a gradual reduction and withdrawal of therapy, with sustaining serum calcium and PTH within normal limits.

Copyright of Medical Journal / Medicinski Časopis is the property of Serbian Medical Society, Section Kragujevac and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)