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Acute haemorrhagic oedema of infancy (AHEI) is a small vessel vasculitis that affects boys between 4 months and 2 years. It presents with a characteristic purpuric skin rash but with marked bruising and “typical” localizations in auricles and is often accompanied by oedema of face and extremities. It is typically post-infectious, especially after infections of the upper respiratory tract and rarely can be associated with gastrointestinal, renal, articular or testicular complications. The paper reports the case of a 2-year-and-5-month-old boy who, 5 days after the resolution of a febrile infection of the upper airways (with subsequent detection of positive IgM and IgG serology for SARS-Cov-2), presented with a rash with ecchymotic/purpuric lesions in his lower limbs, face and auricles associated with intense arthralgia, arthritis of a knee and deterioration of general conditions. The diagnosis of acute infantile haemorrhagic oedema was clear but the clinical presentation required an “important” therapeutic approach with intravenous steroids and an infusion of immunoglobulins.

Papillary thyroid carcinoma (PTC) is the most common form of thyroid tumour in childhood. Different studies reported higher risk of developing a PTC in Hashimoto’s thyroiditis patients (HT) even in paediatric-adolescent age, although real incidence and risk factors are unknown. The paper describes the case of a girl, diagnosed with HT and hypothyroidism at the age of 11, who developed thyroid ultrasound alterations after two years. The histological examination of the satellite lymph node confirmed the diagnosis of PTC. A total thyroidectomy was performed. The follow up scintigraphy did not show disease residues, so no indication was given to radioiodine therapy. The case report underlines the importance of an accurate thyroid and lymph nodes ultrasound monitoring in children with autoimmune thyroiditis, in order to highlight possible malignancy development.

Craniopharyngioma (CP) is a rare epithelial low-grade tumour that develops in the sellar/suprasellar region of the brain, along the craniopharyngeal duct. It has a bimodal distribution and the first peak occurs in paediatric age almost exclusively consisting of the adamantinomatous subtype. A second peak occurs in adulthood after the fifth decade of life and is more likely to be of the papillary subtype. Therapy is based on surgical removal, so the best approach is the endonasal approach, which is sometimes associated with radiation therapy. Molecular target drugs are a promising novelty, indeed they are already in use in adults and are being tested in children. Although CP is considered a low malignancy tumour, its localization and close relationships with important structures such as the optical pathways, the hypothalamic-pituitary axis and the thalamus burden it with important complications (visual disturbances, central obesity, dysendocrinopathies) that can interfere with the patient’s quality of life.

Hashimoto's encephalopathy (HE) is a rare condition in the childhood. It can present with neurological symptoms, psychiatric disorder or seizures. It is more frequently associated with hypothyroidism or euthyroidism, but it can occur, more rarely, even in hyperthyroidism. The presence of serum thyroid (thyroid peroxidase, thyroglobulin) antibodies is a criterion for the diagnosis of HE. We present the case of an 11-years-old girl with HE with seizures associated with hyperthyroidism with an excellent response to a high dose of steroids.

During the onset of diabetic ketoacidosis (DKA), the appearance of hyperchromic urines is a rare occurrence even if already described in the literature. The patient with DKA presents an increased risk to suffer of macrohaematuria due to nephrolithiasis (associated or not with urinary tract infections) and renal vein thrombosis. False macrohaematuria in rhabdomyolysis with myoglobinuria can also occur. This paper describes a case of an 11-year-old boy with severe onset of DKA, with macrohaematuria from kidney stones. The causes of nephrolithiasis in children with DKA are also reported.

In the last few decades, many studies have reported an increasing global incidence of type 1 diabetes. Studies on migrant populations have underlined the importance of both environmental and genetic factors.Evaluate the incidence of type 1 diabetes in North African vs Italian children aged 0-14 years from 1 January 2015, to 31st December 2018, in Emilia-Romagna region, Italy.Clinical and epidemiological data about childhood onset type 1 diabetes in Emilia Romagna region were retrospectively collected by the regional centers of pediatric diabetology and matched using 3 different data sources.365 new cases were diagnosed. Total cumulative incidence was 15.4/100,000/year. North African cases showed a cumulative incidence of 53.8/100,000/year, statistically significant compared to cumulative incidence of the Italian cases alone 13.1/100,000/year (p value 0.001). The annual incidence did not differ in the 4 years for both groups. Conclusion: The incidence of type 1 diabetes in the pediatric age (0 14 years) was significantly higher in the North African population than in the Italian one, suggesting that a mix of genetic and environmental factors may have caused the increase in newly diagnosed cases.• The incidence of type 1 diabetes largely varies worldwide. • Study on immigrants helped to better understand the interplay role between genetics and environment.• This is the first study focused on the incidence of children and adolescents of North African migrants in Italy. • The incidence of children and adolescents of North African migrants in Emilia Romagna region, Italy, seems to be higher than that reported in the host countries, and, above all, than that reported in highest-incidence countries in Europe and in the world.

Objective Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design Retrospective analysis of the Italian data set of patients with TNDM. Methods Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. Results Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; −2.27 SD) than those with KATP mutations (4.0 weeks; −1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.

The case of a 13-year-old girl who presented a recurrence of left retrobulbar optic neuritis, 3 years after the previous episode, is described. The clinic, the imaging and the laboratory tests carried out allow to classify the pathology as an isolated recurrent optic neuritis. Recurrent optic neuritis cases require careful evaluation to exclude the forms that are part of certain systemic pathologies. These are in addition to multiple sclerosis, also new demyelinating disorders such as NMOSD (NeuroMyelitis Optica Spectrum Disorder), the forms of CRION (Chronic Relapsing Inflamatory Optic Neuritis) as well as the ADEM-ON (Acute Disseminated Encephalomyelitis - Optic Neuritis) that must necessarily enter in differential diagnosis for clinical features, neurological image and possible positivity of specific auto-antibodies. In pediatric-adolescent age some forms of optic neuritis can still be isolated and not necessarily underlie a systemic pathology.

We present the case of a 22-month-old child, with an acute onset of celiac disease (CD) and recurrents intestinal intussusception. The child had a marked loss of appetite for 1 month and episodes of food vomiting, almost at every meal, at a distance of about 2 hours, sometimes associated with short-term crying. An abdominal ultrasound has documented a picture compatible with intestinal intussusception (INI), which spontaneously resolved during the ultrasound examination. Since the criteria of the ESPGHAN guidelines were not met in order to be able to diagnose celiac disease without biopsy (in particular there were no TTG IgA values> 10 times the norm), esophageal-gastro-duodenoscopy was performed. Histological examination confirmed CD. The child was placed on a gluten-free diet with rapid improvement of the clinical conditions and gradual recovery of appetite. At home wellness in the first days with subsequent appearance of episodes of crying at night, lasting about 5–10 minutes, all at spontaneous resolution. To progressively increase the episodes of crying it was decided to perform again an ultrasound of the abdomen with evidence of a image compatible again with a picture of INI. Subsequent ultrasound evaluations, performed in the following days, showed the spontaneous resolution of the described picture. In view of the clinical picture, characterized by recurrent INI, it was decided to resume steroid therapy (budesonide, 3 mg/day), waiting for a response to the gluten-free diet. After 2 weeks of complete well-being with clear improvement of the clinical condition, steroid therapy was gradually discontinued, with no more episodes of possible intermittent intestinal intussusception. The prevalence values of intestinal infection in CD are equal to 1.6% in adults and ranging from 0.037% to 1.2% in children, in different studies. In a cohort study, a prevalence of about 1% of INI was detected in children with a new diagnosis of MC, before starting the gluten diet. Given that not all children with CD and abdominal pain have undergone abdominal imaging, this estimate refers to clinically significant cases. The pathogenetic mechanism is not yet fully understood. The course of INI to the diagnosis of CD is generally benign, with spontaneous resolution of the picture with a gluten-free diet. In recurrent intussusception it is important to consider the treatment with steroids before resorting to a more invasive approach, which should be reserved for cases with symptoms of intestinal obstruction.

We conducted a retrospective survey in pediatric centers belonging to the Italian Society for Pediatric Diabetology and Endocrinology. The following data were collected for all new-onset diabetes patients aged 0–18 years: DKA (pH < 7.30), severe DKA (pH < 7.1), DKA in preschool children, DKA treatment according to ISPAD protocol, type of rehydrating solution used, bicarbonates use, and amount of insulin infused. Records(n=2453)of children with newly diagnosed diabetes were collected from 68/77 centers (87%), 39 of which are tertiary referral centers, the majority of whom (n=1536, 89.4%) were diagnosed in the tertiary referral centers. DKA was observed in 38.5% and severe DKA in 10.3%. Considering preschool children, DKA was observed in 72%, and severe DKA in 16.7%. Cerebral edema following DKA treatment was observed in 5 (0.5%). DKA treatment according to ISPAD guidelines was adopted in 68% of the centers. In the first 2 hours, rehydration was started with normal saline in all centers, but with different amount. Bicarbonate was quite never been used. Insulin was infused starting from third hour at the rate of 0.05–0.1 U/kg/h in 72% of centers. Despite prevention campaign, DKA is still observed in Italian children at onset, with significant variability in DKA treatment, underlying the need to share guidelines among centers.

Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X) Turner syndrome. We report the four cases of an infant with a mosaic r(X) Turner genotype and HH responsive to diazoxide therapy.