Metachronous Bilateral Adrenal Neuroblastoma: A Case Report and Literature Review.

A baby presented with a large right adrenal mass, multiple hepatic lesions and diffuse bone marrow infiltration when she was just over 1 month old. After needle biopsy and a histologic definition of neuroblastoma, she underwent chemotherapy and a subsequent complete resection. Three years after diagnosis, a large left adrenal localized mass was detected.

A self-repair history: compensatory effect of a variant on the c.2778+83C>G splicing mutation.

Fanconi anemia (FA) is a genome instability condition that drives somatic mosaicism in up to 25% of all patients, a phenomenon now acknowledged as a good prognostic factor. Herein, we describe the case of P1, a FA proband carrying a splicing variant, molecularly compensated by a insertion. Targeted next-generation sequencing on P1's peripheral blood DNA detected the known c.

Primary breast lymphoma of childhood: a case report and review of literature.

Background: Primary breast lymphoma (PBL) is an extremely rare neoplasm in children; by definition, it manifests in the breast without evidence of lymphoma elsewhere, except ipsilateral axillary nodes.

Case Presentation: We report a case of a 15-year-old girl diagnosed with diffuse large B-cell lymphoma (DLBCL) of the right breast: the patient received chemotherapy and rituximab, achieving complete remission. A literature review revealed other 11 cases of pediatric PBL; it mainly affects female adolescents and can involve right and left breast equally.

Association of Immune Thrombocytopenia and Celiac Disease in Children: A Retrospective Case Control Study.

Objective: The association between celiac disease (CD) and immune thrombocytopenia (ITP) is still uncertain. The aim of this study was to characterize the coexistence of these two diseases in Italian children.

Materials And Methods: This is a retrospective multicenter study investigating the occurrence of CD in 28 children with ITP diagnosed from January 1, 2000, to December 31, 2019.

Association of Immune Thrombocytopenia and Inflammatory Bowel Disease in Children.

Background: The association between inflammatory bowel disease (IBD) and immune thrombocytopenia (ITP) is still uncertain. In this multicenter retrospective study, the coexistence of both diseases was investigated in children diagnosed from 1 January 2000 to 31 December 2019.

Methods: Clinical characteristics of both IBD and ITP, onset of disorders, and patient's response to treatment were collected through a structured form sent to 55 Italian pediatric referring centers for hematological disorders.

Rasburicase-induced Methemoglobinemia: A Case Report and Literature Review.

Rasburicase is a recombinant urate oxidase enzyme indicated for tumor lysis syndrome, a potential life-threatening oncologic emergency that occurs most commonly during initial chemotherapy for hematological malignancies. As a result of the defects in the physiological antioxidant pathway, erythrocytes of patients with glucose-6-phosphate dehydrogenase deficiency are not protected against the oxidizing stress exerted by hydrogen peroxide generated with the administration of rasburicase. The authors report a 14-year-old patient, diagnosed with T-cell acute lymphoblastic leukemia, who developed methemoglobinemia and hemolytic anemia with low oxygen saturation after starting steroids, hyperhydratation, and rasburicase administration.

Different Cardiac Anomalies in Mother and Son with 4q-Syndrome.

We report a female patient with asymptomatic cor triatriatum sinister, associated with 4q34.3 deletion. Her child, carrying the same imbalance, suffers from tetralogy of Fallot.