Два случаја на несиндромска конгенитална унилатерална хипоплазија во една фамилија

Micromastia or breast hypoplasia is described as underdevelopment of a woman's mammary tissue. We present the case of a 15-year-old girl with unilateral micromastia, with familial predisposition. Ultrasound, hormonal, dysmorphic, cardiologic, genetic examinations and testing were performed. No mutation in the whole- exome sequencing was found, nor novel mutation. Some of these cases have been reported to be related to breаst cancer so further follow-up is mandatory. Therapy consists of surgical reconstruction of the affected breast. This is a rare condition and it requires a multidisciplinary approach.Микромастија или хипоплазија на дојки е опишана како недоразвиеност на ткивото на дојката кај жените. Опишавме случај на 15-годишно девојче со унилатерална микромастија со фамилијарна предиспозиција. Беа направени ехосонографски, хормонални, дисморфични, кардиолошки и генетски испитувања и тестови. Не беше пронајдена мутација на целокупниот секвенциониран ексом, ниту пак нова мутација. Некои од овие случаи се прикажани како да се поврзани со канцер на дојката и затоа се потребни понатамошни задолжителни следења. Терапијата се состои од хируршка реконструкција на афектираната дојка. Ова претставува ретка состојба, но бара мултидисциплинарен пристап

Бенигна транзиторна хиперфосфатазија- причина за вознемирување или бенигна состојба

Benign transient hyperphosphatasemia (BTH) is a condition which occurs in children younger than five years, characterized by a complete absence of specific clinical and laboratory findings of bone or liver diseases and a five or even 20–70-fold increase in serum of alkaline phosphatase levels(ALP). The aim of this case report was to point out that elevated levels of ALP are not always related to serious bone and liver diseases. We described three healthy patients, which were referred to our out-patient clinic by their primary care physicians because of markedly elevated levels of ALP. The diagnosis of BTH was based on a thorough physical exam, a wide range of laboratory and imaging tests, which excluded liver or bone disease as a cause for elevated ALP. BTH is not very well-known and managed in daily clinical practice. Primary care physicians should consider this diagnosis in cases with elevated ALP in otherwise healthy infants and toddlers, refrain from unnecessary tests, prescribing higher doses of vitamin D3 or referral to tertiary level pediatric institutions.   Бенигната транзиторна хиперфосфатазија (БТХ) е состојба која се јавува кај деца помлади од пет години. Се карактеризира со целосно отсуство на специфични клинички и лабораториски наоди за болести на коските и црниот дроб и пет или дури 20-70 пати поголемо зголемување на серумското ниво на алкална фосфатаза (АЛП). Целта на овој приказ на случаи беше да се истакне дека случаен наод на покачено серумско ниво на АЛП не е секогаш поврзано со сериозни заболувања на коските и црниот дроб. Опишавме три здрави пациенти, кои беа упатени во нашата амбуланта од страна на лекари од примарната здравствена заштита поради значително зголемено ниво на АЛП. Дијагнозата на БТХ беше заснована на темелен клинички преглед, широк спектар на лабораториски тестови, со што беа исклучени заболувања на црниот дроб и коските како причина за покачена АЛП. БТХ е состојба која не е добро позната и менаџирана во секојдневната клиничка пракса. Лекарите од примарната здравствена заштита треба да ја имаат предвид оваа дијагноза во случаи со покачена АЛП кај здрави доенчиња и мали деца и да се воздржат од правење непотребни тестови и препишување повисоки дози на витамин Д3.&nbsp

Конечна висина кај момче со ахондроплазија третирано со хормон за раст – приказ на случај

Achondroplasia is the most common genetic form of skeletal dysplasia in humans. It is characterized by short stature and skeletal disproportion. Patients with this condition have comorbidities, such as cardiovascular problems, spinal cord problems, hearing and dental problems as well as psychological issues. We report final height of 147 cm in a 17-year-old boy treated with growth hormone, however without improvement in body proportions. Surgical therapy for limb lengthening had been proposed, which the patient refused. At this age he developed hypertension and was referred to a cardiologist, nephrologist, as well as to an orthopedic surgeon and psychologist. Recently, a new treatment with vosoritide has been introduced, promising better height outcome, but uncertain phenotype improvement. Multidisciplinary approach is recommended for these patients and close monitoring during childhood, adolescence and adulthood. Genetic counseling is also advised.    Ахондроплазијата е најчеста генетска форма на скелетна дисплазија кај луѓето. Се карактеризира со низок раст и скелетна диспропорција. Пациентите со оваа состојба имаат коморбидитети, како што се кардиоваскуларни, проблеми со 'рбетниот мозок,  со слухот и забите, како и психолошки проблеми. Утврдивме конечна висина од 147 cm кај 17-годишно момче третирано со хормон за раст, но без подобрување во пропорциите на телото. Предложена е хируршка терапија за издолжување на екстремитетите, која беше одбиена од страна на пациентот. На истата  возраст кај пациентот се појавила хипертензија и бил упатен на кардиолог, нефролог, како и на ортопед и психолог. Неодамна, воведен е нов третман со восоритид, кој ветува подобри резултати во однос на висината, но со ограничени резултати за фенотипска презентација. За овие пациенти се препорачува мултидисциплинарен пристап и внимателно следење во периодот на  детството, адолесценцијата и зрелоста. Кај нив се предлага и генетско советување

Surgical Treatment of a Seven-Year-Old Boy with Refractory Epilepsy Due to Focal Cortical Dysplasia, Case Report

The most common developmental malformation encountered in patients with refractory epilepsy is Focal Cortical Dysplasia (FCD). Malformations of cortical development, in particular FCDs are identified in 20–25% of patients with focal epilepsy, and approximately 76% of these patients are supposed to suffer from drug-resistant epilepsy. A promising therapy option for these patients could be surgical treatment. We present a seven-year-old child with drug-resistant epilepsy, who underwent surgical treatment that had an excellent outcome. Throughout the period of five years, the index patient was admitted several times to the Department of Neurology at the University Pediatrics Clinic-Skopje. He was initially admitted at the age of two years, because of his first episode of febrile seizures accompanied by diarrhea. In the following period, during the hospitalization, febrile seizures also developed. CT findings showed a slight degree of front parietal cortical reduction, while the first MRI showed a slight dysmorphia at the frontal gyri, yet no focal abnormalities. The initial EEG revealed a bihemispheric epileptogenic focus. The reason for constant treatment alterations was drug-resistance. Although some encephalographic stabilization had been achieved, a full clinical response had never been obtained for a prolonged period. At the age of seven years, a pediatric epilepsy surgical team at the University School of Medicine–ACIBADEM, Turkey, evaluated the patient. The conclusion of the team was that the child is a candidate for surgical treatment of epilepsy. The child underwent surgery at the age of eight years and has been seizure free since.Keywords: Focal Cortical Dysplasia, Epilepsy, Surgery

Demographic, Clinical and Biochemical Characteristics of Pediatric Obesity: Interim Analysis of a Larger Prospective Study

Introduction: Pediatric obesity is a common nutritional disorder that affects more than a third of the young population and predis-poses individuals to greater future morbidity and mortality. Materials and methods: Sixty-two children were recruited in the study. Demographic and clinical information regarding the pa-tients and their parents was collected. Data about the weight, height, systolic (SP) and diastolic (DP) blood pressure, lipid metabolic profile, thyroid hormone levels, glucose and insulin levels before and after oral glucose tolerance test (OGTT) of participants were also collected. Body mass index (BMI) was calculated and patients were classified into groups according to the International Obesity Task Force criteria. Descriptive, comparative parametric, non-parametric tests and Spearman’s ranked correlations were used in the statistical analysis. Results: The study sample consisted of 34 males and 28 females aged 11.6 and 11.8 years, respectively (p=0.781). The mean BMI was 30.5 (SD 5.5): 8 of participant had normal weight (≤25 BMI), 22 were overweight (25-30 BMI), and 32 were obese (≥30 BMI). The chil-dren’s BMIs were significantly associated with parental BMIs (r=0.395, p=0.004). Both SP and DP were significantly different between BMI subgroups (p=0.005 and p=0.001, respectively) with the obese group having the highest values (post-hoc Benjamini,  p=0.004). Obese children had lower average T4 levels when compared to the comparators (7.5 µg/dL vs. 9.9 µg/dL, p=0.021). Obese children had significantly lower baseline glucose levels and higher insulin levels when compared to the overweight/normal BMI children (73.8 mg/dL vs. 86.4 mg/dL, p<0.001 and 21.8 µgU/mL vs. 132 µgU/mL, p=0.003). Obese children had the greatest numerical increase in glucose levels during the OGTT (Δ63.0 mg/dL vs. Δ43.2 mg/dL, p=0.063) and numerically smaller absolute insulin response (Δ86.1 µIU/mL vs. Δ125.7 µIU/mL, p=0.307).  Conclusions: Pediatric patients demonstrate familial type of obesity and premorbid asymptomatic endocrine impairments. In order to maintain normal glucose levels, obese pediatric patients demonstrate high levels of resting insulin levels and diminished response after OGTT load