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Hyperthyroidism is a rare clinical entity in paediatric age. In most cases the etiology is autoimmune and goiter represents the typical presentation. Ophthalmopathy is rare and can precede the diagnosis of autoimmune hyperthyroidism. Thyrotoxicosis caused by the hyperthyroid phase of Hashimoto’s thyroiditis must be carefully distinguished from Graves’ disease (GD), since the first condition has a better prognosis for spontaneous remission. Three treatment options are currently available for the management of paediatric GD. First-line therapy is antithyroid drugs, while thyroidectomy and radioiodine are considered on relapse. A lower remission rate and a higher risk of adverse events are observed after the first course of methimazole in childhood with respect to adulthood. Children and adolescents may require a prolonged antithyroid treatment, but an overall consensus regarding the optimal regimen is lacking.

Acute urticaria is a frequent benign disease in children and is often secondary to infections. Usually it is a self-limited histamine-dependent cutaneous condition marked by transient, erythematous, and pruritic wheals and frequently by acral angioedema. A haemorrhagic pattern characterised by annular and polycyclic lesions with central ecchymosis is a possible presentation especially in young children and it can be so alarming as to cause hospital admission. Establishing the correct diagnosis of acute annular urticaria (a morphologic subtype of simple infectious urticaria recently referred as urticaria multiforme) is important to prevent an unnecessary diagnostic work up. In an otherwise well-appearing child erythema multiforme, serum sickness-like reaction and acute haemorrhagic oedema of infancy are the principal differential diagnoses. A direct history and physical examination can reliably distinguish all these conditions, avoiding laboratory investigations and allowing appropriate treatment. Reassurance and oral non-sedating antihistamine therapy are sufficient .

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital disorder characterised by variable aplasia of the uterus and the upper part of the vagina in women with a normal 46,XX karyotype and normal ovarian function. It may be isolated (type I) but it is more frequently associated with other congenital defects (type II), mainly renal and vertebral defects. Exact etiology remains unknown. Clinical presentation is primary amenorrhoea with normal development of secondary sexual characteristics and normal external genitalia. Ultrasound and MRI allow accurate identification of MRKHS. Diagnosis may be delayed even in cases with known renal or vertebral malformation and causes important psychological distress. The creation of a neovagina allows sexual intercourse; fertility is obviously compromised.

Severe/medically complicated obesity in childhood, and particularly in adolescence, is a real disability that requires an intensive and continuous approach which should follow the procedures and schedule of rehabilitation medicine. Given the lack of a specific document focusing on children and adolescents, the Childhood Obesity Study Group set out to explore the available evidence for the treatment of severe or medically complicated obesity and to set standards tailored to the specific context of the Italian Health Service. Through a series of meetings and electronic communications, the writing committee (selected from members of the Study Group) selected the key issues, explored the literature and produced a draft document which was submitted to the other experts until the final synthesis was approved by the group. In brief, the following issues were involved: (1) definition and epidemiology; (2) identification of common goals designed to regain functional competence and limit the progression of metabolic and psychological complications; (3) a multi-professional team approach; (4) the care setting. This paper is an expert opinion document on the rehabilitation of severe and medically complicated obesity in children and adolescents produced by experts belonging to the Childhood Obesity Study Group of the Italian Society for Pediatric Endocrinology and Diabetology (ISPED).

La malattia di Kawasaki (MK) è una vasculite sistemica che di norma colpisce bambini di 2-5 anni: la diagnosi ed il trattamento sono in genere facili, come descritto nel primo caso. Tuttavia, nonostante un'ageguata terapia, il 10-15% dei pazienti sviluppa aneurismi dell'arteria coronarica. I pazienti ad alto rischio sono quelli sotto l'anno di età o con forme incomplete o atipiche. Per questo motivo la tempestività della diagnosi risulta fondamentale per iniziare una terapia adeguata. Questo articolo descrive alcuni casi di forme atipiche di MK: un ascesso retrofaringeo, un ittero colestatico febbrile e una sindrome da attivazione macrofagica. Tuttavia, l'articolo riporta alcuni casi severi di MK come uno shock emodinamico, il caso di un paziente che ha ricevuto una terapia anti-TNF a causa dell'inefficacia della terapia standard ed infine il caso di un adulto che ha subito un intervento di bypass aorto-coronarico dovuto alle conseguenze di un aneurisma gigante sviluppato all'età di 2 anni dopo la MK. Alla fine dell'articolo, i messaggi trasmessi dai casi descritti sono riassunti in 10 punti.

Adrenal insufficiency is a rare condition in childhood. Clinical characteristics of adrenal insufficiency in children may be non-specific. Therefore, the diagnosis may be suspected late. If unrecognized, adrenal insufficiency may present with life-threatening cardiovascular collapse. In this article, current knowledge of the clinical manifestations, diagnosis, and treatment of adrenal insufficiency in children and factors precipitating adrenal crisis are summarized.

Gynecomastia is the glandular proliferation of male breast tissue, involving up to 65% of men in their lifetime. It is often a benign condition, but it can be the sign of a serious endocrine disease and the source of significant physical and psychological stress. It is important to understand its pathogenesis in order to distinguish a normal developmental variant from pathological causes and to guide a correct treatment on its specific cause.

Una formazione nodulare nel contesto del parenchima tiroideo; può essere rilevata sia clinicamente (ispezione e palpazione) che ecograficamente. Fino al 40% dei noduli tiroidei vengono riscontrati accidentalmente all’ecografia (“incidentalomi”). I noduli possono essere singoli o multipli. Il nodulo solitario risulta il più frequente in età pediatrica e va sempre indagato, in quanto espressione non specifica di una varietà di possibili malattie, che impongono la diagnosi differenziale con il carcinoma tiroideo. Il gozzo multinodulare risulta infrequente e tipico dell’età adolescenziale-adulta; nel suo contesto va indagato un eventuale nodulo dominante, che si caratterizza per il maggior volume e per il rapido accrescimento.

"This book is a real Treaty of paediatric Rheumatology. (Perhaps the only treaty that's out there. Certainly the more usable than a pediatrician could find: complete and easy to read at the same time. This book is more than just a Treaty of Rheumatology. And in fact a living tool that, through the interpretation of Rheumatology, lets go over a large part of Pediatrics which is useful to the present day: easy or difficult. It is a work in which the experience of the older authors and prestigious joins, and it was revived, the enthusiasm and desire to do well (and teach) of younger authors. A miracle only possible thanks to the dedication and passion of Loredana Lepore, to its ability to act concretely with joy and never stop learning and teaching ".

Achalasia is a rare primary esophageal disorder in the paediatric age group and in most cases is idiopathic. Familial achalasia is rarely described and can also be reported in some syndromes. It is predominantly characterized by vomit and regurgitation, dysphagia to solids and liquids, weight loss and chest pain; symptoms are age-specific. Although achalasia is rare in children, with an incidence of approximately 0.1/ 100,000, its symptoms may mimic common childhood diseases and therefore may delay the diagnosis. Moreover, achalasia may be a part of the AAA (achalasia-alacrimiaadrenal insufficiency) syndrome and its identification may help to quickly diagnose the underlying adrenal insufficiency. The management of achalasia in children is still controversial; laparoscopic Heller’s myotomy seems to be the procedure of choice. This report describes the cases of four children affected by achalasia who did not show the symptom dysphagia which, as a result, led to misdiagnosis and diagnostic delay.

Background. Recently glycated hemoglobin (A1c) ≥ 48 mmol/mol has been included among the diagnostic criteria for type 2 diabetes mellitus (DM2) in adults, while borderline levels of 39-47 mmol/mol indicate impaired glycemia (pre-diabetes). In overweight/ obese children an oral glucose tolerance test (OGTT) is used to screen for DM2 and pre-diabetic status (impaired fasting glucose [IFG] and impaired glucose tolerance [IGT]). A1c could therefore theoretically replace OGTT as a screening test in children at risk for DM2, IFG, IGT, or insulin resistance (IR). Methods. Italian patients aged less than 18 years, consecutively assessed for overweight/obesity (BMI > 85th percentile) in our Pediatric Endocrinology Outpatient Care Unit between July 2011 and December 2012, were included. A1c was determined for each patient (IFCC method) and an OGTT was done (blood glucose and insulin levels at 0, 60 and 120 min). Results. Data were collected from 225 patients (105 males), mean age 11.2 ± 3.2 years and mean BMI 27.6 ± 4.7 (77% with BMI > 95th percentile). Mean A1c was 36.2 ± 4.9 mmol/mol (range 16-50). Three cases had IFG, 12 IGT and 83 IR. In 71 cases (32%) with borderline A1c, none had IFG, 5 had IGT, and 37 had IR. The only child known to be diabetic had borderline A1c. Sensitivity and specificity were 0, 67.6% for IFG, 41.6, 68.8% for IGT, 45.1, 76.1% for IR. Conclusions. A1c is not sensitive enough for detecting diabetic and pre-diabetic status, so it would not be a reliable tool. Given the intermediate specificity of borderline A1c 39-47 mmol/mol to identify pre-diabetic status, confirmation with an OGTT is always advisable. In our series, borderline A1c was better at predicting IR.

Ectopic thymus is a rare benign cause of paediatric neck masses. Because of embryologic migrational defects, ectopic thymic remnants can be found along the descent pathway from the mandible angle to the superior mediastinum. Clinically, between 2 and 13 years of age, ectopic thymus presents as a painless neck mass, secondary to hyperplasia (like in the normal thymus gland). Ectopic thymus rarely determinates symptoms of compression of adjacent cervical structures. Radiologic imaging and biopsy (especially in cases of intra-thyroidal nodules) help to determine the nature of the mass. If ectopic thymus is definitively diagnosed before surgery, it can be treated conservatively. In asymptomatic cases surgery is not mandatory because there is no convincing evidence of malignant degeneration and bleeding is very rare and typical of adulthood. A spontaneous involution of thymic tissue after puberty is expected.

Objectives About 1.4 million children die every year from pneumonia, most of them in low and middle-income countries. On the other hand, underweight is highly prevalent in these countries: in 2011, 3.3% of children younger than five years were severely underweight and 17.4% moderately underweight. To explore the association between being underweight and pneumonia mortality, we analysed data on children admitted for pneumonia in a 12-years period in Malawi and we conducted a systematic review and meta-analysis of observational studies. Materials and Methods - Malawian database: we collected all the individual patients’ charts of children younger than five years admitted for pneumonia in 40 Malawian hospitals during the period 2001-2012. Data were inputted in a database and analysed with STATA 12. We calculated the crude Odds Ratio (OR) and 95% confidence interval (95%CI) for death from pneumonia in severe underweight (weight-for-age z-score < –3 standard deviations) and moderate underweight (–3 to –2 standard deviations). We performed a logistic multivariate analysis to calculate the Odds Ratio adjusted for sex and age. - Systematic Review: we searched Medline, Embase, Lilacs, Web of Science, and Global Health Library for published observational studies reporting on the association between underweight and pneumonia mortality in children younger than five years in low and middle-income countries. No date or language filters were applied. Data were meta-analysed using a random-effects model. Results -Malawian database: of the 100,936 cases (6,563 deaths) of pneumonia with complete data (89.0% of the total), 11.0% were severely underweight and 12.6% moderately underweight. Univariate analysis showed an increased odds of death in both severe underweight (OR 4.8; 95% CI 4.5-5.1) and moderate underweight (OR 2.2; CI 95% 2.1-2.4). After adjustment for age and sex the ORs increased to 5.3 (95% CI 5.0-5.7) and 2.5 (95% CI 2.3-2.7), respectively. -Systematic Review: we identified 26 studies from 11 countries, including 18,890 children. The pooled OR for death from pneumonia was 4.3 (95% CI 3.5-5.4) for severe underweight (17 studies) and 2.5 (95% CI 1.9, 3.3) for moderate underweight (16 studies). Substituting the adjusted ORs to the crude ORs in the meta-analysis did not change the results for moderate underweight but increased the pooled OR for severe underweight (OR 5.2; 95%CI 3.8-7.2). Key findings These two different types of data and analysis led to similar results, confirming that underweight remains a major risk factor for pneumonia mortality in children in low and middle-income countries.