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Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder, due to inactivating muta-tions of TSC1 or TSC2 mTOR pathway genes and is characterized by variable multisystem manifestations ranging from hamartomas to malignant neoplasms. It frequently associated to seizures, intellectual disability and behavioural disorders. Surgical treatment has traditionally been used to manage subependymal giant cells astrocytomas (SEGA). The introduction of mTOR inhibitor rapamycin, with its definite role both as primary and as adjuvant treatment, has significantly modified the management opportunities in the clinical practice. It is important to consider both treatment options in a balanced way and not only the SEGA, but also the individual patient and their associated comorbidities. The pros and the cons of both options should be discussed by a multidisciplinary team before establishing an individualized treatment recommendation. The paper reports the case of a patient with an asymptomatic SEGA who was treated with everolimus. The treatment was effective in reducing the size of the tumour, it was safe and well tolerated.

Anakinra is a recombinant interleukin (IL)-1 receptor antagonistusedforseveralinflammatoryconditionsincludingsystemicjuvenileidiopathicarthritis,recurrentpericarditis,andfamilialMediterraneanfever (FMF). Its efficacy in blocking IL-1 and its manageable safetyprofilesupportitsusealsoinotherconditions,suchassepsis,acutemyocardialinfarction,andCOVID-19

Purpose: To analyze toxicity and outcome predictors in Ewing sarcoma patients with lung metastases treated with busulfan and melphalan (BU-MEL) followed by whole-lung irradiation (WLI). Methods: This retrospective study included 68 lung metastatic Ewing Sarcoma patients who underwent WLI after BU-MEL with autologous stem cell transplantation, as part of two prospective and consecutive treatment protocols. WLI 12 Gy for &lt, 14 years old and 15 Gy for ≥14 years old patients were applied at least eight weeks after BU-MEL. Toxicity, overall survival (OS), event-free survival (EFS) and pulmonary relapse-free survival (PRFS) were estimated and analyzed. Results: After WLI, grade 1–2 and grade 3 clinical toxicity was reported in 16.2% and 5.9% patients, respectively. The five-year OS, EFS and PRFS with 95% confidence interval (CI) were 69.8% (57.1–79.3), 61.2% (48.4–71.7) and 70.5% (56.3–80.8), respectively. Patients with good histological necrosis of the primary tumor after neoadjuvant chemotherapy showed a significant decreased risk of pulmonary relapse or death compared to patients with poor histological necrosis. Conclusions: WLI at recommended doses and time interval after BU-MEL is feasible and might contribute to the disease control in Ewing sarcoma with lung metastases and responsive disease. Further studies are needed to explore the treatment stratification based on the histological response of the primary tumor.

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A severe course of infectious mononucleosis should always lead up to the suspicion of a primary immunodeficiency. We describe the case of a boy with severe mononucleosis accompanied by the development of hemophagocytic lymphohistiocytosis and lymphoma. By whole exome sequencing, we identified a mutation of uncertain significance in CTPS2, a gene closely related to CTPS1, which is involved in a primary immune deficiency with susceptibility to herpesviruses. We discuss the challenge of a correct interpretation of data from whole exome sequencing, questioning whether the CTPS2 variant found in our patient is just an incidental finding or a mutation with variable penetrance.

To describe a rare case of congenital self-healing Langerhans cell histiocytosis (CSHLCH) presenting with atypical eye involvement.Case report.A female newborn presented with purpuric lesions over the trunk, limbs, and face. Liver ultrasonography revealed hypoechogenic lesions with blurred borders. Biomicroscopy showed right posterior synechiae with fibrinoid deposits on the lens. At 7 months she presented with right acute glaucoma.Biomicroscopy showed the presence of inflammatory pseudo-membrane covering the anterior surface of the lens, iris, and iridocorneal angle. Ab externo trabeculotomy was performed; access to the anterior chamber with capsulorrhexis forceps permitted a peeling of the pseudo-membrane with normalization of the intraocular pressure. Histologic examination of the membrane revealed an inflammatory tissue with CD1a and S-100 positive histiocytic cells.This is the first case of CSHLCH describing acute glaucoma secondary to a pseudo-inflammatory membrane with typical histiocytic cells, occluding the iridocorneal angle.

Hepatic veno-occlusive disease (VOD) is a frequent and severe complication of hematopoietic stem cell transplantation (HSCT) affecting 9.6–17.3 % of cases. 200 HSCT, performed between January 1995 and March 2013 in our Paediatric HSCT Centre in Trieste, were retrospectively analysed to evaluate the frequency of VOD and to identify the associated risk factors. The frequency of VOD according to the Seattle criteria was 17 %, within the range reported in literature. The mortality rate was 37.5 % (75 out of 200 transplantations) in the general population and 73.5 % (25 out of 34) in VOD patients (p

Merkel Cell polyomavirus (MCPyV), a ubiquitous DNA tumor virus, has been found to be associated with Merkel cell carcinoma and chronic lymphocytic leukaemia while other associations are still being explored. MCPyV sequences have also been detected in normal tissues of tumor patients and in the blood of healthy donors. This report documents a new MCPyV association with the Stevens–Johnson syndrome, a rare immune-modulated mucocutaneous process particularly associated with specific drugs and infective agents. A high MCPyV viral load was detected simultaneously in fluid from skin lesions (2.0 × 104 copies/ml) and in matched blood (7.4 × 105 copies/ml) from a young adult patient after bone marrow transplant for a relapsed T-cell acute lymphatic leukaemia. MCPyV clearance concurred with the complete resolution of skin lesions after 5 days of cidofovir treatment. DNA sequencing classified the amplicons as the European/Italian MKL-1 strain. Given its ubiquitous nature, MCPyV could account for part of Stevens–Johnson syndrome idiopathic cases. J. Med. Virol. 85:918–923, 2013. © 2013 Wiley Periodicals, Inc.

Background Serum anti-actin IgA antibodies (AAA) were identified in patients with celiac disease (CD), and a close correlation emerged between the presence of AAA and mucosa damage, but test for AAA found in celiacs have a wide range of sensitivity and specificity values. Aim To compare 1) the sensitivity and specificity of untreated, calcium-chelated and heated sera from 102 celiacs, 52 sick patients and 103 healthy controls in the determination of AAA, and 2) the reliability of AAA with anti-transglutaminase antibodies (anti-tTG) in diagnosing celiac disease and in predicting intestinal damage. The intestinal derived AAA was isolated by using the phage-display library technique. Results Treated sera was significantly more sensitive than untreated (p = 0.0001), and showed a significant correlation between AAA and the three degrees (3a, 3b, 3c) of intestinal damage (p = 0.01). Sensitivity and specificity values of anti-tTG assay were higher than the AAA assay, and anti-tTG serum-concentration was only significantly correlated with more severe (3b and 3c) intestinal damage degrees. AAA isolated by phage display showed similar results of serum AAA in immunofluorescence assay. Conclusions Notwithstanding correlation between AAA and celiac disease, AAA assay, also after treatments, has little to offer in screening for CD compared to the well-established anti-transglutaminase assay.

Aims: To determine coeliac disease prevalence by an anti-transglutaminase antibody assay in a large paediatric population; to evaluate acceptance of the screening programme, dietary compliance, and long term health effects. Methods: Cross-sectional survey of 3188 schoolchildren (aged 6–12) and prospective follow up of diagnosed cases. Main outcome measures were: prevalence of coeliac disease defined by intestinal biopsy or positivity to both human tissue transglutaminase and anti-endomysium antibodies in HLA DQ2-8 positive subjects; percentage of children whose families accepted screening; dietary compliance as defined by negativity for anti-transglutaminase antibodies; and presence of clinical or laboratory abnormalities at 24 month follow up. Results: The families of 3188/3665 children gave their consent (87%). Thirty biopsy proven coeliacs were identified (prevalence 1:106). Three other children testing positive for both coeliac related autoantibodies and HLA DQ2-8 but refusing biopsy were considered as having coeliac disease (prevalence 1:96). Of 33 cases, 12 had coeliac related symptoms. The 30 biopsy proven coeliacs followed a gluten-free diet. Of 28 subjects completing 18–24 months follow up, 20 (71.4%) were negative for anti-transglutaminase antibodies, while eight were slightly positive; symptoms resolved in all 12 symptomatic children. Conclusions: Prevalence of coeliac disease is high in Italian schoolchildren. Two thirds of cases were asymptomatic. Acceptance of the programme was good, as was dietary compliance. Given the high prevalence and possible complications of untreated coeliac disease, the availability of a valid screening method, and evidence of willingness to comply with dietary treatment population mass screening deserves careful consideration.