The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.

Introduction: Interleukin-1 (IL-1) blockade is the treatment of choice of cryopyrin associated periodic syndromes (CAPS). Anti-IL-1 monoclonal antibody (canakinumab) was recently registered. However no clear data are available on the optimal schedule of administration of this drug.

Factitious disorders and Munchausen syndrome: the tip of the iceberg.

This population-based study evaluates the prevalence of factitious disorders, Münchausen syndrome, and Münchausen syndrome by proxy in a clinical setting. All children referred to the Pediatric Unit of the Department of Pediatrics of the Catholic University Medical School (Agostino Gemelli Hospital) in Rome were recruited between November 2007 and March 2010. An experienced interdisciplinary team of medical professionals analyzed all suspected cases.

Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.

In selected cases, childhood's recurrent fevers of unknown origin can be referred to systemic autoinflammatory diseases as mevalonate kinase deficiency (MKD), caused by mutations in the mevalonate kinase gene (MVK), previously named "hyper-IgD syndrome" due to its characteristic increase in serum IgD level. There is no clear evidence for studying MVK genotype in these patients. From a cohort of 305 children evaluated for recurrent fevers in our outpatient clinic during the decade 2001-2011, we have retrospectively selected 10 unrelated Italian children displaying febrile episodes, associated with recurrent inflammatory signs (variably involving gastrointestinal tube, joints, lymph nodes, and skin) and persistently increased serum IgD levels.

Isolated pericardial agenesis revealed by bradycardia and heart MRI in a healthy 5-year-old child.

We present a five-year-old boy with an unremarkable medical history who was incidentally found to have bradycardia and electrocardiographic signs of right axial deviation. Initial echocardiogram showed left displacement of the cardiac apex with slight enlargement of the right ventricle, while frontal chest radiograph showed a lucent area between the aorta and pulmonary artery. Cardiac magnetic resonance imaging finally revealed a partial left pericardial agenesis and abnormal displacement of the heart into the left hemithorax.

Incidental finding of idiopathic unilateral adrenal calcification in an 18-month-old child: case report and review of the literature.

The presence of calcified lesions in the adrenal gland requires a careful endocrine, microbiological and radiological evaluation combined with detailed clinical history to confirm its non-evolving nature and avoid unnecessary surgery. We report an 18-month-old male child hospitalized with an incidentally discovered calcification in his right adrenal gland. All biochemical data as well as liver, renal and adrenal function tests were normal.

Massive proteinuria: a possible side effect of pyrantel pamoate?

Drug-induced renal injury represents a frequent clinical entity. The most common drugs associated with acute tubular necrosis are aminoglycosides, amphotericin B, radiocontrast agents, and cyclosporine, but no data exist about the potential renal toxicity due to anthelmintics administration. Anthelmintics are commonly considered quite safe agents, and side effects such as gastrointestinal, neurologic, hematologic, or hepatic injury have been only rarely described.

Comparison of clinical features and drug therapies among European and Latin American patients with juvenile dermatomyositis.

Objectives: To compare the demographic features, presenting manifestations, diagnostic investigations, disease course, and drug therapies of children with juvenile dermatomyositis (JDM) followed in Europe and Latin America.

Methods: Patients were inception cohorts seen between 1980 and 2004 in 27 paediatric rheumatology centres. The following information was collected through the review of patient charts: sex; age at disease onset; date of disease onset and diagnosis; onset type; presenting clinical features; diagnostic investigations; course type; and medications received during disease course.

Long-term response after 6-year treatment with anakinra and onset of focal bone erosion in neonatal-onset multisystem inflammatory disease (NOMID/CINCA).

The exact elucidation of skeletal and cartilagineous involvement in neonatal-onset multisystem inflammatory disease (NOMID) is still poorly known, and there are few data providing the long-term response to treatment with the available interleukin-1 inhibitors. We present here a 13-year-old boy with NOMID treated with anakinra and low-dose methylprednisolone since he was 7 years old for an overall period of 6 years. Every clinical manifestation was highly responsive to interleukin-1 blockade, with the exception of his bone abnormalities.

Prognostic impact of atypical presentation in pediatric systemic lupus erythematosus: results from a multicenter study.

Objectives: The aim of the study is to assess the rate of atypical manifestations at onset in pediatric systemic lupus erythematosus (SLE) and to evaluate their effect on disease outcome.

Study Design: This is a multicenter retrospective cohort study. A manifestation was considered atypical if it was not included in the American College Rheumatology classification criteria for SLE but was reported in literature as associated with SLE.

Longitudinal study of microvascular involvement by nailfold capillaroscopy in children with Henoch-Schönlein purpura.

The aim of this study is to describe by video-nailfold capillaroscopy the microvascular involvement and capillary changes in children with Henoch-Schönlein purpura (HSp) and to establish a possible correlation with clinical outcome. Thirty-one patients underwent capillaroscopic evaluation through a videomicroscope during the acute phase and after 6 months. Twenty sex/age-matched controls were also examined.

Post-inflammatory retinal dystrophy in CINCA syndrome.

Right chorioretinitis and bilateral pseudopapilledema were firstly appreciated in a 9-month-old child with neonatal findings of aseptic chronic meningitis, framed in the context of CINCA syndrome at 1 year. Therapeutical response to various combinations of drugs was inconsistent until 7 years, when anakinra was started with immediate clinical and laboratory improvement. A state of severe retinal dystrophy of post-inflammatory origin became evident on funduscopy, optical coherence tomography and visual electrophysiology tests at the age of 10 years, which remained stationary after 1 year of anakinra treatment.

A novel MEN1 frameshift germline mutation in two Italian monozygotic twins.

Background: This report describes clinical, biochemical and molecular findings regarding two Italian monozygotic twins carrying a novel multiple endocrine neoplasia type 1 (MEN1) mutation inherited from their mother.

Methods: Clinical, biochemical and genetic evaluations of the above-mentioned family members were performed.

Results: All three members were heterozygous for a deletion involving the first nucleotide at codon 98 in exon 2 of the MEN1 gene, which results in early termination of the protein.

Longstanding epileptic encephalopathy and linear localized scleroderma: two distinct pathologic processes in an adolescent.

We report a 7-year-old boy who unexpectedly developed a multi-drug resistant epilepsy with negative neuroimaging results, followed by the insidious appearance of linear localized scleroderma involving the right leg. When the boy was 16 and severely affected by epileptic encephalopathy, we have evaluated this case for the first time: his localized scleroderma had reached the right buttock and positive anti-nuclear antibody was the only positive laboratory test. Methotrexate administered for 12 months was ineffective in improving both the organization of his electroencephalographic pattern and seizure control, though seemed to stabilize the progression of linear scleroderma.

Correspondence between clinical improvement and proteomic changes of the salivary peptide complex in a child with primary Sjögren syndrome.

The aberrant induction of salivary/lacrimal proteins is considered to be crucial in the pathogenesis of sicca-symptoms related to primary Sjögren syndrome (SS). We report the case of an 11-year-old boy who was admitted to hospital due to recurrent bilateral parotid gland enlargement and keratoconjunctivitis, which were diagnosed as primary SS upon a combination of laboratory and instrumental tests. The proteomic analysis of the salivary peptide complex in the patient's salivary fluid near diagnosis and after 6 months of pharmacological therapy revealed quantitative and mostly qualitative differences.

Exposition to chickenpox of two children with autoinflammatory syndromes under treatment with anakinra.

We report two children with autoinflammatory syndromes treated with anakinra who came in contact with the varicella-zoster virus after being exposed accidentally to infected children: both cases were managed prophylactically with specific antichickenpox intravenous immunoglobulins and anakinra temporary suspension; neither adverse events nor complications related to the natural course of chickenpox were experienced by the two patients. The risk of developing infectious events should be closely monitored, because of the absence of data concerning long-term safety of biological agents in the pediatric age, and prevention strategies should be highly encouraged before they are started.

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study.

A retrospective clinical and immunological survey was conducted in 60 patients with Chronic Granulomatous Disease. A prospective controlled non-randomized study of the efficacy of long-term IFNgamma treatment was carried out. The mean age at the time of diagnosis was 4.

Penile involvement in Henoch-Schönlein purpura with good prognosis.

Henoch-Schönlein purpura (HSP), the commonest vasculitis in children, occurs most frequently between the ages of 4 and 6 years. We report the case of a 3-year-old boy with an otomastoiditis who was treated with cephalosporin and corticosteroids following a typical purpuric skin rash diagnosed as HSP. The patient also developed an acute occurrence of impairment of the glans, prepuce and penis 4 days after recovery that completely disappeared after a further 2 days, with the cutaneous rash subsiding on discharge from hospital.

First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome.

We describe for the first time a case of macrophage activation syndrome in a child with hyperimmunoglobulinemia D with periodic fever syndrome who required intensive care support. Up-regulated monokine production, high serum levels of triglycerides and ferritin, clotting abnormalities with hypofibrinogenemia, and rapidly evolving pancytopenia should alert the clinician to the possible diagnosis of macrophage activation syndrome, even in autoinflammatory diseases characterized basically by the periodic recurrence of unprovoked inflammatory attacks. Bone marrow aspiration showing well-differentiated macrophages phagocytosing hematopoietic elements remains the main tool for a final diagnosis, and cyclosporine is the best strategy for treatment.

Large pericardial effusion requiring pericardiocentesis as cardinal sign of macrophage activation syndrome in systemic onset-juvenile idiopathic arthritis.

We report a case of large pericardial effusion which has been managed with pericardiocentesis as the main presentation feature of a dramatic clinical picture, only retrospectively framed as referred to macrophage activation syndrome in a child with juvenile idiopathic arthritis at its onset. The risk of developing this rare and severe complication should be recognized in various pathological settings of childhood, above all in children displaying systemic signs of juvenile idiopathic arthritis.

Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome.

Hyperimmunoglobulinemia D/periodic fever syndrome is caused by recessively inherited mutations in the mevalonate kinase gene and is characterized by persistently high polyclonal serum IgD titre and recurrent febrile attacks. No conventional therapy exists for preventing the typical recurrent inflammatory picture of patients. A host of studies have evidenced that elevated levels of various cytokines, such as interleukin-1 (IL-1), mark febrile attacks in this disease and that IL-1 might represent a suitable therapeutic target.

Deep neck infection complicating lymphadenitis caused by Streptococcus intermedius in an immunocompetent child.

Background: Streptococcus intermedius belongs to the Streptococcus anginosus group. It is part of the normal flora of the human mouth, but it can be etiologically associated with deep-site infections.

Case Presentation: We present a case of deep neck infection complicating Streptococcus intermedius lymphadenitis, which developed in an immunocompetent 14-year-old boy with a history of recent dental work.

IgA nephropathy in an Italian child with familial Mediterranean fever.

Familial Mediterranean fever is an autosomal recessive disorder characterized by transient attacks of fever and polyserositis with substantial risk of developing amyloidotic nephropathy over time. We report an Italian child with familial Mediterranean fever presenting with hematuria during attacks in whom kidney biopsy documented the presence of mesangial IgA deposits and the absence of amyloidosis. Kidney biopsy should be performed in patients showing microscopic or gross hematuria during attacks of familial Mediterranean fever in order to gain additional epidemiological data about specific features of renal involvement and to allow adequate treatment.

Recombinant interferon gamma lb and low dose steroid in two pediatric cases of nonspecific interstitial pneumonia.

We report two young girls, the first almost 18 years old and the second 12 1/2 years old, affected with nonspecific interstitial pneumonia, both diagnosed at the age of 11 by open lung biopsy and both being treated with low-dose steroid. Due to insufficient response to conventional therapy and based on positive therapeutic results following the use of subcutaneous recombinant interferon gamma-1b in fibrosing interstitial pneumonias of adults, they were given a 1-year trial of subcutaneous recombinant interferon gamma-lb in association with a steroid. Our experience with these two young patients suggests that interferon gamma-lb cannot be considered as stabilizing or a curative therapy to control or reverse nonspecific interstitial pneumonia unresponsive to steroids alone.