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[Epub ahead of print], Background Venous thromboembolism (VTE) - which includes deep venous thrombosis (DVT) and pulmonary embolism (PE) - has been increasingly recognized in the pediatric population. The estimated incidence is 0.07-0.14 cases per 10,000 children. Most cases are associated with two or more risk factors. Medium and long-term complications include recurrence and post-thrombotic syndrome (PTS). Objective To characterize the adolescent population with the diagnosis of DVT of lower limbs in a tertiary hospital, regarding its clinical presentation, associated risk factors, treatment and outcome. Methods Retrospective analysis of adolescents with the diagnosis of DVT of lower limbs in our hospital for a period of 7 years. Results Eight patients were identified; seven were females; median age was 15 years. The main symptoms were local pain and edema. Left lower limb was affected in six patients. PE occurred in two cases. Positive family history of venous thromboembolism was found in five patients. Seven patients had at least two identifiable risk factors. Combined oral contraceptive pill use was the most common (seven patients). Factor V Leiden mutation was found in three patients and protein C deficiency in one. Iliac vein compression syndrome was diagnosed in one patient. The median time for discharge was 8 days. Election treatment was enoxaparin followed by warfarin, for a median period of 10.9 months. Three patients developed PTS. Conclusions Although uncommon, VTE is an emerging reality in adolescents, particularly in females using oral contraceptive pills. Appropriated prevention strategies and treatment are required as most orientations are extrapolated from adults., (undefined)

Introduction The prevalence of neonatal hyperthyroidism (HN) due to maternal Graves Disease (GD) ranges from 0.1 to 2.7%. It may occur in pregnant women with the following: active DG, after treatment with radioactive iodine, anti-thyroid or thyroidectomy or with a previous child with hyperthyroidism. The aim of our observational study was to evaluate the follow-up of infants born to mothers with GD at a Tertiary Hospital prior to the implementation of a follow-up protocol. Methods This was a retrospective observational study using data from the medical records of mothers with a diagnosis of GD and their newborns from January 2013 until May 2018. Newborns were divided into two groups: high and low risk for NH according to maternal TRAb, third trimester treatment and signs of fetal hyperthyroidism. Results We identified 31 newborns, 58% female; 87% high risk. In none of the newborns was umbilical cord blood collected. In the high risk group, 22% had thyroid function evaluation at day-1, one patient presented with hyperthyroidism and 82% were asymptomatic. Considering the cases with an insufficient blood sample for analysis, 9 consultations would have been spared. We found a significant delay in obtaining the high-risk group results which would have spared 10 appointments. A positive correlation was found between age at outpatient clinic discharge and the number of appointments and the maternal TRAb titer. Conclusion The correct surveillance of pregnancy and newborns with identification of those at high risk is essential to avoid unnecessary consultations and blood analyses that increase parental anxiety and hospital costs. Consequently, a multidisciplinary protocol was created to standardize the approach.

Introduction Graves’ disease (GD) is an autoimmune thyroid disease, common in adults but rare in children. The best therapeutic approach remains controversial. Objectives To ascertain the current treatment of pediatric GD in Portugal and to assess the clinical and biochemical factors that determine definitive/long-term remission after treatment with antithyroid drugs (ATDs). Patients and methods A retrospective analysis of data about pediatric GD treatment collected from a nationwide survey conducted by the Portuguese Society of Pediatric Endocrinology and Diabetology from May to August 2013. Population was categorized based on sex, age, use of ATDs, dosage, treatment duration, adverse reactions, thyrotropin receptor-stimulating antibody (TRAB) titer, remission and remission/relapse rates, and definitive treatment, and divided into group A (with ongoing treatment) and group B (with treatment stopped). Group B was subdivided into ‘Remission’, ‘Remission + relapse’ and ‘No remission’ subgroups based on the course of disease. The same parameters were compared between both groups. Results Survey response rate was 77%; 152 subjects, 116 female, mean age at diagnosis 11.23 ± 3.46 years. They all started treatment with ATDs, 70.4% with thiamazole, with a mean treatment duration of 32.38 ± 28.29 months, and 5.9% had adverse effects. Remission rate was 32.6%. Lower age at diagnosis correlated with higher remission rates. Treatment duration was longer when propylthiouracil was used. Initial TRAB titer was significantly higher in the ‘No remission’ group. Surgery and radioiodine were used as second-line treatments. Conclusion Our study results were similar to those reported in the literature. Age and TRAB titer were identified as potential clinical and laboratory determinants of remission. Based on risk/benefit analysis, it was concluded that treatment should be individualized based on age, accessibility to treatments, and physician's experience.

A 12-year-old Caucasian girl was referenced to a paediatric endocrinology consultation for extensive acanthosis nigricans (AN), hirsutism and severe obesity (Body Mass Index (BMI): 37.5 kg/m2, z-score 3.57). She had a normal psychomotor development. Her mother and her maternal grandfather had

A previously healthy, non-asthmatic, non-smoker, 16-year-old male came for medical attention because of odynophagia and pain located at anterior cervical area and upper retrosternal area, increasing with swallowing and deep breathing, that begun after physical exercise at gymnastic class. The adolescent also mentioned a felling of air bubbles running up and down that area. There was no history of local trauma. He referred stuffed nose and mild cough but no other respiratory complaints or fever. Physical examination was unremarkable, with normal auscultation and no alterations on …

The authors report a case of a 15-year-old girl with hypopituitarism due to pituitary stalk interruption syndrome diagnosed in the neonatal period. The patient was admitted to the emergency room with impaired consciousness and hypoglycaemia. The day before, she increased her water intake to about 1.5 L to perform a pelvic ultrasound. In the following hours, she developed vomiting and food refusal. Blood analysis revealed hypoglycaemia, hyponatraemia, decreased serum osmolality and normal urinary density. Hyponatraemia and adrenal crisis were managed with a gradual but slow resolution of consciousness and electrolytic balance. This case describes an episode of iatrogenic water intoxication in a patient under desmopressin treatment. Although uncommon, dilutional hyponatraemia is the main complication of desmopressin treatment. We reinforce the importance of patients and caregivers’ long-life education for the potential complications of an increase in fluid intake in patients treated with desmopressin.

Herpes zoster, caused by varicella zoster virus (VZV) reactivation, affects mainly the adult population, although it can occur in children. This happens when primary infection (varicella) has occurred at a very young age or in immunocompromised patients. Complications are rare in healthy individuals. They include VZV cutaneous dissemination, which affects 2%-10% of immunocompromised patients.We present a previously healthy child, with history of varicella during her first month of life, which presented at age 8 with a severe case of herpes zoster, complicated with cutaneous dissemination. Immunity study was unremarkable. Causes, management and follow-up are discussed., (undefined)

A 16-year-old healthy adolescent boy was referred to the paediatric endocrinology clinic because of multiple thyroid nodules detected by cervical ultrasound, in the context of cervical lymphadenopathies. There was no family history of thyroid disease. He denied recent infections, asthenia, weight loss, sweating, palpitations, mood or sleep disturbances, dysphagia or dysphonia. At physical examination, an enlarged, irregular and fibroelastic thyroid, with a predominant right lobe, was identified. The remaining examination was normal. The analytical profile was thyroid stimulating hormone (TSH)

An otherwise healthy girl aged 4 years was observed because of a 6-month history of tachycardia, polyphagia, chronic cough and agitation. Physical examination revealed hiperhydrosis, exuberant exophthalmia (figure 1) and a palpable, elastic and painless goitre. Laboratory work up showed an increased FT4, low thyroid-stimulating hormone (TSH) and positive thyrotropin receptor antibodies (TRABs) (figure 2), and thyroid ultrasonography demonstrated a diffusely heterogeneous, enlarged gland with no nodules, compatible with Graves' disease. The girl was initiated immediately to treatment with tiamazole (MTZ) and propranolol, and after few months, an euthyroid state was achieved and maintained until 2 years (figure 2). After this period, MTZ treatment was suspended and …

Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD) therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options., info:eu-repo/semantics/publishedVersion