Radiologic evaluation has a major role in confirming the diagnosis of a suspected wandering spleen and avoiding potentially life-threatening complications requiring immediate surgery.

We are reporting 3 cases of pediatric endobronchial tumors presented with recurrent pneumonia. The median age of patients, at time of presentation, was 10.6 years. All patients presented with recurrent pneumonia with a mean time to occurrence, after onset of symptoms, of 14 mo. Bronchoscopy was early performed as part of diagnostic work-up and it revealed an endobronchial mass in every case. Complete surgical resection was performed in all cases, with lung preservation in two of them. Neither post-operative chemotherapy nor radiotherapy was required. The mean duration of follow-up was 7 years and all patients are still alive and disease-free. Recurrent pneumonia, in pediatrics, should raise the suspicion of an obstructing lesion, congenital malformation or systemic disease. A systematic approach is useful for organize the clinicians initial workup. Prompt diagnosis allows parenchymal-sparing surgery, which offers the best chance of cure and reduces clinical and functional complications in these patients.

Our results should encourage the use of this treatment because it is a valid and safe option in childhood. The high success rate achieved with percutaneous drainage and sclerotherapy of cystic lesions supports our results.

Gut involvement is frequent in immunologic disorders, especially with inflammatory manifestations but also with cancer. In the last years, advances in functional and genetic testing have improved the diagnostic and therapeutic approach to immune dysregulation syndromes. CTLA-4 deficiency is a rare disease with variable phenotype, ranging from absence of symptoms to severe multisystem manifestations and complications. We describe a rare case of CTLA-4 deficiency in a boy with gastric cancer, very early onset inflammatory bowel disease and polyautoimmunity, the second-ever reported in the literature with the same characteristics. A 17-year-old boy was referred to Bambino Gesù Children’s Hospital of Rome, a tertiary care center, for a gastric mass and a long-term history of very early onset inflammatory bowel disease, diabetes mellitus type 1, polyarthritis and psoriasis. Histology of gastric biopsies revealed the presence of neoplastic signet ring cells. Imaging staging showed localized cancer; therefore, the patient underwent subtotal gastrectomy with termino-lateral gastro-jejunal anastomosis. Immunological work up and genetic testing by next-generation sequencing panels for primary immunodeficiencies led to the diagnosis of CTLA-4 deficiency. Good disease control was obtained with the administration of Abatacept. The patient experienced an asymptomatic SARS-CoV-2 infection without any concern. Eighteen months after treatment initiation, the patient is alive and well. Immunologic and genetic testing, such as next-generation sequencing, should always be part of the diagnostic approach to patients with complex immune dysregulation syndrome, severe clinical course, poor response to treatments or cancer. The early recognition of the monogenic disease is the key for disease management and targeted therapy.

No abstract