Cushing's syndrome is a rare disease in the paediatric age group. Adrenocortical carcinomas (ACC) constitute the most common cause of Cushing's syndrome between 1 and 5 years of age. Often, ...adrenocortical carcinomas co-secrete other hormones such as androgens (testosterone), deoxy-corticosterone (DOCA), or 17-hydroxy-progesterone 17(OH)P in addition to cortisol. This may manifest with symptoms and signs of precocious puberty along with Cushing's syndrome. It is rare for a benign adrenocortical adenoma to co-secrete androgens and other hormones in addition to cortisol. Differentiation between adenoma and carcinoma is difficult in all aspects: clinical, radiological, and histopathological. Here, we describe the case of a 2.5-year-old male child who presented with Cushing's syndrome and virilization. Although we suspected ACC clinically, the radiological and histopathological findings were suggestive of benign adrenocortical adenoma. Our case represents the diagnostic challenge that exists in paediatric adrenocortical tumours.
Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal ...diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation.
All cases presented with high glucose levels and were treated with insulin. EIF2AK3 homozygous mutation was identified in all 3 on genetic analysis. Initial screening testing for associated comorbidities was normal, including X-ray examination, which did not show any signs of epiphyseal dysplasia in all cases. Case 2 and case 3 were both lost to follow-up and were later found to have expired at the ages of 18 months and 2 years, respectively, due to liver failure associated with intercurrent respiratory illness in hospitals in their native towns. Case one is now 2 years old on regular follow-up in paediatric Endocrine and neurology clinics and doing well so far.
Morbidity, as well as mortality, is high among children with WRS neonatal diabetes. It is crucial to screen for gene mutation in patients with diabetes diagnosed before 6 months. Close therapeutic monitoring is recommended in WRS because of the risk of acute episodes of hypoglycaemia and ketoacidosis.
Pheochromocytoma is a rare tumor during childhood, originating from the chromafine tissue. The clinical presentation can be variable and assembling many other diseases. This tumor submits specific ...care problems. We report the case of a 7-year-old boy who presented with headache, fever, abdominal pain and vomiting evolving for 3 days. The physical examination revealed a painful abdomen, a high blood pressure and profuse sweating. As an acute appendicitis was suspected, abdominal ultrasound then abdominal CT were performed, revealing multiple bilateral adrenal masses. Measurement of 24-hour urinary catecholamines showed a marked increase in normetanephrines: 7,18 mg/24 h (normal range: 0.07-0.46 mg/24 h). The MIBG scintigraphy revealed a bilateral fixation in the two adrenals. During the next weeks, the patient developed close peaks of threatening hypertension, controlled with difficulty through the concomitant use of three anti hypertensive treatments. He underwent surgery two months after the first consultation, and had a total adrenalectomy on the right side and subtotal on the left side. The pathological examination concluded with multiple and bilateral pheochromocytomas with a PASS score between 2 and 6. The patient was treated with hormone replacement therapy immediately after the surgery. The subsequent course with a 10-month follow-up was favorable with disappearance of functional signs, correct blood pressure, good general condition, normal growth and a normal biological balance.
Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal ...profiles.
We present two female newborns with atypical screening results born shortly after the introduction of neonatal screening for congenital adrenal hyperplasia in the Wielkopolska region. Female patients 1 and 2 were both born at term and discharged from neonatal departments without any suspicion of disease. After performing complete neonatal screening for CAH, girls were admitted to the endocrine department for further investigations. In both cases, the girls did not exhibit characteristic symptoms of the disease. Using the Synacthen test, we observed an insufficient increase in cortisol and an abnormal increase in 17-OHP concentrations. The 24-hour urinary steroid profile analyzed by GC-MS confirmed the diagnosis. In both cases, treatment with hydrocortisone and fludrocortisone was initiated. Genetic evaluation confirmed mutations in the CYP21A2 gene.
Newborn screening for CAH is useful for revealing a moderate form of CAH and indicates the need to start treatment in cases without typical signs of disease to prevent further virilization and the generation of a GnRH-independent precocious puberty. For nonobvious screening results, clinical information, including any data on virilization, is extremely helpful. Therefore, a careful assessment of newborns' genitalia in neonatal departments is important. The screening laboratory should be informed about any abnormalities to perform a complete screening immediately decreasing significantly the time between taking the paper sample and the final diagnosis.
Sixteen early and middle Albian bivalve species, belonging to fourteen genera, eleven families and seven orders, and one brachiopod species are systematically described from the Mitrovčić section ...near Topola (Oplenac Hill), Vardar Zone of central Serbia. Four bivalve species: Acesta subrigida (Roemer, 1836), Acesta cf. dorbignyana (Mathéron, 1843), Neithea (Neithea) sexcostata (S. Woodward, 1833), “Cardium” cottaldinum d'Orbigny, 1844, and one terebratulide species, Praelongithyris rogeri Gaspard, 1974 are recorded from the lower and middle Albian rocks of central Serbia for the first time. The section comprises reddish ferruginous calcareous sandstones that are assigned to the lower Albian as indicated by the presence of the ammonite Douvilleiceras mammillatum (Schlotheim), while yellowish sandy wackestones/packstones located below the late Albian Mortoniceras (M.) inflatum (J. Sowerby), are middle Albian in age. Most of the identified bivalve taxa have a Tethyan affinity and seem to be closest to faunas from western and eastern Europe. This indicates that these regions were close to Serbia during the early–middle Albian. The occurrences of some of these Tethyan bivalves at the northern and western Pacific coast of South America and southern coast of North America is explained by dispersal through the opening of the North Atlantic Ocean during the Albian (Proto-North Atlantic Ocean). Meanwhile, the occurrence of some other Albian taxa along the eastern coast of South America (South Atlantic) was probably a result of the opening of the equatorial Atlantic gateway during that time. The faunas are not endemic, indicating that the larvae were long-lived and possessed a high dispersal potential, facilitated by seaways during the Albian.
Silver-Russell syndrome (SRS) is a rare condition, affects one in 100,000 births. Turner syndrome (TS) is a chromosomal disorder, with an incidence of one in 2,500 females. Patient with SRS and ...mosaic 45, X/46,X,del(X) karyotypes can have a wide range of phenotypic manifestations. The aim of this article is to present a case report of a patient with an extremely rare and not reported so far genetically confirmed diagnose of Silver-Russell syndrome and Turner syndrome.
The patient is a 9-years old girl who had a karyotype of 45,X on prenatal amniocytes. After delivery she was small for gestational age and her phenotype was quite consistent with Russell-Silver syndrome: characteristic dimorphic facial skeleton with a triangular face with prominent forehead, thin nose, hypotonia and hemihyperthrophy. The girl was admitted to hospital due to short stature and deep body weight deficiency. Skin fibroblast and DNA analysis showed mosaic karyotype 45,X14/46,X,del(X)(p21.2) and hypomethylation of a gene H19 located on chromosome 11p15. At present the patient is treated with growth hormone in our clinic with good therapeutic results.
The diagnosis of one genetic disorder does not rule out the possibility of a second genetic disease. Early diagnosis of coexistence of two different genetic syndromes, although very difficult, may help with quickly, appropriate therapy for patients and prevent them from developing serious complications.
A 16-years old boy with diagnosis of Grave's disease was treated with methimazole for one year before radical total thyroidectomy treatment due to persistence of clinical hormonal hyperthyroidism. ...Histological analysis revealed the presence of a papillary microcarcinoma. The management of Grave's disease in pediatric age is still under discussion. Therefore, close monitoring of the disease is required, as well as case-by-case tailored decision on how to manage treatment and when to perform the radical one, taking into account the association of Grave's disease with differentiated thyroid cancer in adults and the higher malignancy of thyroid cancer in childhood.
The hyperosmolar hyperglycaemic state (HHS) is a very severe condition characterised by hyperosmolality, hyperglycaemia and dehydration without significant ketosis. The article presents the case of a ...14.5-year-old cachectic patient with diagnosed HHS. Appropriate treatment per the ISPAD Guidelines was implemented. After metabolic stabilisation was achieved, the patient was transferred for further treatment to the Pediatric Gastroenterology Department due to her life-threatening cachexia. Normal glucose levels were observed during hospitalisation and the patient required no further insulin supplementation. Unfortunately, two months after discharge from hospital, the patient suffered sudden death at home. The patient did not live until full diabetological diagnostics could be performed. The transient hyperglycaemia may have been caused by a very early stage of type 1 diabetes (pre-diabetes), malnutrition-related diabetes mellitus (MRDM) or stress-induced hyperglycaemia (SIH). The case demonstrates that HHS can develop not only secondary to diabetes, but also be a severe complication of transient carbohydrate metabolism disorders in the course of cachexia.
Coronavirus disease 2019 (COVID-19) can be diagnosed as occupational disease by an occupational health physician (OHP), if supported by relevant work-related and medical documentation. The aim of ...this study was to analyse such documentation submitted by Croatian healthcare workers (HCWs) and discuss its relevance in view of European and Croatian guidelines. The study included 100 Croatian HCWs who were SARS-CoV-2-positive and requested that their infection be diagnosed as occupational disease by their OHPs from 1 May 2020 to 10 March 2021. As participants they were asked to fill out our online Occupational COVID-19 in Healthcare Workers Questionnaire. For the purpose of this study we analysed answers about the type of close contact at the workplace, COVID-19 symptoms, and enclosed work-related (job description, employer statement about exposure to SARS-CoV-2) and medical documentation (positive SARS-CoV-2 polymerase chain reaction test and patient history confirming the diagnosis of COVID-19). Most participants were working in hospitals (N=95), mostly nurses (N=75), who became infected by a patient (N=68) or colleague (N=31), and had at least one COVID-19 symptom (N=87). Eighty participants did not enclose obligatory documents, 41 of whom failed to submit job description and 31 both job description and employer statement. These findings confirm that the major risk of occupational COVID-19 in HCWs is close contact with patients and colleagues, and points out the need for better cooperation between OHPs, occupational safety experts, employers, and diseased workers.
EXPERIENCE OF MEDIATORS IN THE FAMILY MEDIATION PROCESS IN THE CASES OF VIOLENCE IN PARTNER RELATIONSHIPS ABSTRACT The paper presents the experience of mediators in the family mediation process in ...the cases of violence in partner relationships based on the results of a research conducted in seven social welfare centres in which twelve experts adequately trained for the implementation of family mediation participated. The aim of the research was to describe and analyse the experience of the mediators in the family mediation process with the partners who had experienced violence and to determine the possibility of its application in such cases. The qualitative approach was used, and the procedure of topic analysis was used. The research results show that the mediators point out some specific features of the management of the mediation process with the partners who have experienced violence with regard to the safety of the process, establishment of the balance of power and a constructive dialogue of the parties in mediation, which demands the mediators to apply certain techniques and skills. Additionally, the results of the research indicate that the mediators perceive the possibility to implement family mediation with the partners who have experienced violence and that, apart from the basic prerequisites for the implementation of mediation, they emphasise the necessity to recognise the specific prerequisites, such as the time distance from violence, the influence of violence on the victim, creation of safe conditions, good level of the mediators’ education and the application of some procedures which should be conducted in terms of the assessment of violence, safety and selection of the mediation model. Key words: family mediation, violence in partner relationships, experience of mediators, description of the mediation process, possibility to conduct family mediation.
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