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Vasculitis is defined by a state of inflammation of the blood vessel walls. It can result in formation of either aneurysms or stenosis with ischemia and necrosis. The heterogeneity of clinical presentation depends on the type and size of the vessels involved, which leads to different patterns of organ damage. The skin is usually involved but not necessarily as a first manifestation of disease. Indeed, significant organ damage may occur at any time in the disease course and may precede other symptoms with significant morbidity and mortality, especially in case of diagnostic delay. The most common vasculitides in childhood are IgA-associated vasculitis (Schönlein-Henoch purpura) and Kawasaki disease. Other vasculitides are much rarer, often arising with insidious symp- toms that make them life-threatening. This paper aims to review the literature on paediatric vasculitides providing a practical guide to disentangle between different diagnoses. It also provides an overview that underlines the key differences in vasculitis presentation, management and follow-up.

Background Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child. Case presentation An 11-years-old girl presented with worsening dyspnea after a 3-weeks history of progressive proximal weakness, myalgia, dysphagia, and weight loss. Her past history was remarkable for a type I Arnold-Chiari malformation associated with an anterior sacral meningocele. Physical examination showed severe hypotony and hypotrophy. Pulse oximetry and blood test showed a type II respiratory failure (SpO2 88%, pCO2 68 mmHg) and increased muscle enzyme levels (CPK 8479 U/L, AST 715 U/L, ALT 383 U/L, LDH 1795 U/L). The patient needed invasive mechanical ventilation. Inflammatory myositis was considered and treatment with intravenous methylprednisolone (30 mg/Kg/day for 3 days followed by 2 mg/Kg/day) and IVIG (1 g/kg/day for 2 days) was started. Muscle biopsy showed endomysial and perimysial necrosis and inflammation. The presence of serum anti-TIF1-γ antibody positivity led to a malignancy screening. Whole-body MRI showed a mature teratoma underneath sacral meningocele and both lesions were surgically removed. Given the histological and clinical severity of the myopathy, mycophenolate (500 mg twice a day) and rituximab (360 mg/m2, 4 weekly infusions) were added. Due to extreme muscular wasting, severe malnutrition and intolerance to enteral feeding the patient needed a transient tracheostomy and parenteral nutrition, followed by physiotherapy, speech therapy and nocturnal non-invasive ventilation. A complete remission was achieved 3 months after. Conclusions Among cancer-associated autoantibodies (CAAs) in adult patients, anti-TIF1-γ carries the highest risk of CAM, which recognizes with a high likelihood a paraneoplastic pathogenesis. In children, anti-TIF1-γ antibody has been associated with severe cutaneous disease, lipodystrophy, and chronic disease course, but not with CAM, which is overall rare in younger patients. Severe onset of a JIIM, especially if anti-TIF1-γ antibody positive, should prompt suspect of a CAM and lead to a screening for malignancy.

The author describes the case of a 3-year-old boy presenting with cough and fever that had been persisting for seven days and not respondent to amoxicillin. Neutrophilic leukocytosis and diarrhoea were also present. The diagnosis of adenovirus infection was finally made, confirmed by the serological test.

The author describes the case of a 13-year-old girl presenting with abdominal pain, thrombocytopoenia and neutropoenia. A thickened gallbladder was evident at abdominal sonography. The diagnosis of EBV infection, based on serological investigation, was finally made.

The article reports two cases of a rare paediatric disease: erythropoietic protoporphyria (EPP) characterized by burning erythema and variable liver damage. EPP is the most common porphyria in children, caused by mutations in ferrochelatase (FECH) gene, which is the last enzyme along the haem biosynthetic pathway. Consequently, haem precursor protoporphyrin IX accumulates in erythrocytes, plasma, skin and liver. The clinical features are: photosensitivity (pain, itching, burning along with oedema and/or erythema in sun-exposed areas), mild anaemia, and a variable degree of hepato-biliary disease with potential cholelithiasis and, in 1-5% of patients, end-stage liver disease. Diagnosis is made by finding elevated erythrocyte protoporphyrin and confirmed by molecular genetic testing in FECH gene. Therapy is based on sun protection, vitamin D, and beta-carotene, along with ursodeoxycholic acid and/or cholestyramine if hepatobiliary disease is present. Afamelanotide and cimetidine have shown efficacy in treating photo-sensitivity, but do not prevent liver damage, so that a tight follow-up is needed.

Adrenal insufficiency is an insidious diagnosis that can be initially misdiagnosed as other life-threatening endocrine conditions, as well as sepsis, metabolic disorders, or cardiovascular disease. In newborns, cortisol deficiency causes delayed bile acid synthesis and transport maturation, determining prolonged cholestatic jaundice. Subclinical adrenal insufficiency is a particular challenge for a pediatric endocrinologist, representing the preclinical stage of acute adrenal insufficiency. Although often included in the extensive work-up of an unwell child, a single cortisol value is usually difficult to interpret; therefore, in most cases, a dynamic test is required for diagnosis to assess the hypothalamic-pituitary-adrenal axis. Stimulation tests using corticotropin analogs are recommended as first-line for diagnosis. All patients with adrenal insufficiency need long-term glucocorticoid replacement therapy, and oral hydrocortisone is the first-choice replacement treatment in pediatric. However, children that experience low cortisol concentrations and symptoms of cortisol insufficiency can take advantage using a modified release hydrocortisone formulation. The acute adrenal crisis is a life-threatening condition in all ages, treatment is effective if administered promptly, and it must not be delayed for any reason.

In this retrospective multicentre study based on cardiac MR, the cardiological outcome of MIS-C patients does appear favourable regardless of severity of the cardiac involvement during the acute phase.

Background Data on the effective burden of the SARS-CoV-2 pandemic in pediatric population are very limited, mostly because of the higher rate of asymptomatic or paucisymptomatic cases among children. Updated data on COVID-19 prevalence are needed for their relevance in public health and for infection control policies. In this single-centre cross-sectional study we aimed to assess prevalence of SARS-CoV-2 infection through IgG antibodies detection in an Italian pediatric cohort. Methods The study was conducted in January 2021 among both inpatients and outpatients referring to Research Institute for Maternal and Child Health “Burlo Garofolo” in Trieste, Friuli Venezia-Giulia, Italy, who needed for blood test for any reason. Collected samples were sent to Italian National Institute of Health for analysis through chemiluminescent immunoassay (CLIA). Results One hundred sixty-nine patients were included in the study, with a median age of 10.5 ± 4.1 years, an equal distribution for sex (49.7% female patients), and a 55.6% prevalence of comorbidities. Prevalence of anti-SARS-CoV-2 trimeric Spike protein IgG antibodies was 9.5% (n = 16), with a medium titre of 482.3 ± 387.1 BAU/mL. Having an infected cohabitant strongly correlated with IgG positivity (OR 23.83, 95% CI 7.19–78.98, p Conclusion We assessed a 9.5% SARS-CoV-2 seroprevalence in a pediatric cohort from Friuli Venezia-Giulia region in January 2021, showing a substantial increase after the second peak of the pandemic occurred starting from October 2020, compared to 1% prevalence observed by National Institute of Statistics (ISTAT) in July 2020.

The case of a 12-year-old boy with proteinuria, microhaematuria and nephrocalcinosis with normal glomerular function is described. A diagnosis of Dent disease was eventually made and confirmed by the genetic test.

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Background Children with severe cognitive impairments (CI) from any cause, such as cerebral palsy (CP), dysmorphic or chromosomal syndromes, traumatic brain injury, neurodegenerative disorders, and epileptic syndromes, experience pain more frequently than healthy peers. Although it is a common problem, pain is many times unrecognized because these patients are often unable to self- verbalize it or exhibit uncommon behaviors when they experience it, leading to a delay in the recognition and management of pain by the physicians. Untreated chronic or recurrent pain profoundly affects the quality of life of these children and interferes with their performance and adaptive function. Recognition, measurement, and treatment of pain in this population is challenging, and a clinical diagnosis of urinary tract infection or lithiasis may not be immediate. Case presentation: We report the case of an eight-year-old child with cerebral palsy who was admitted for recurrent abdominal pain lasting for one month. While blood laboratory tests were all in the normal range, the diaper examination revealed multiple stones. Urine culture tested positive for Providencia stuartii, a Gram-negative bacteria, and an antibiotic treatment with ceftibuten was started for two weeks. The patient fully recovered in three days without any recurrence. Conclusions urine analysis, to detect an infection, and renal and bladder US, to rule out stones, should be systematically considered in patients with cognitive impairment with unexplained pain. In a pragmatic, concise approach, the basic principles of diagnosis and treatment of pain in children with cognitive impairment are reviewed.

The term “severe neurologic impairment” (SNI) is used to describe a group of disorders of the central nervous system which arise in childhood, resulting in motor impairment, cognitive impairment and medical complexity. As a result, much assistance is required with activities of daily living. Since these patients are often unable to self-report pain, or they may exhibit uncommon behaviors when suffering, pain manifestations may go unrecognized. In this article, the basic principles of how to approach pain in children with SNI are discussed.