Context Up to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade optic pathway gliomas (OPGs) that can result in endocrine dysfunction. Data on prevalence and type of endocrine disorders in NF1-related OPGs are scarce. Objectives The aim of the study was to determine the prevalence of endocrine dysfunctions in patients with NF1 and OPGs and to investigate predictive factors before oncological treatment. Design Multicenter retrospective study. Settings and patients Records were reviewed for 116 children (64 females, 52 males) with NF1 and OPGs followed at 4 Italian centers. Main outcome measures We evaluated endocrine function and reviewed brain imaging at the time of OPG diagnosis before radio- and chemotherapy and/or surgery. OPGs were classified according to the modified Dodge classification. Results Thirty-two children (27.6%) with a median age of 7.8 years had endocrine dysfunctions including central precocious puberty in 23 (71.9%), growth hormone deficiency in 3 (9.4%), diencephalic syndrome in 4 (12.5%), and growth hormone hypersecretion in 2 (6.2%). In a multivariate cox regression analysis, hypothalamic involvement was the only independent predictor of endocrine dysfunctions (hazard ratio 5.02 [1.802-13.983]; P = .002). Conclusions Endocrine disorders were found in approximately one-third of patients with Neurofibromatosis type 1 and OPGs before any oncological treatment, central precocious puberty being the most prevalent. Sign of diencephalic syndrome and growth hormone hypersecretion, although rare, could be predictive of optic pathway gliomas in NF1. Tumor location was the most important predictor of endocrine disorders, particularly hypothalamic involvement.

Background: Primary lung tumors in pediatric patients are rare, predominantly malignant, and present diagnostic challenges due to symptom overlap with more common conditions such as inflammatory processes or asthma. Evidence-based approaches for managing these rare neoplasms in childhood are scarce. This retrospective study reports the experience of a pediatric referral center in diagnosing and treating these tumors. Methods: Pediatric primary lung tumors treated at Giannina Gaslini Children’s Hospital between January 2016 and January 2024 were included. Data on clinical presentation, histopathology, imaging, treatment approaches, and outcomes were systematically collected and analyzed. Results: Nine patients (six males and three females) were identified, with a mean age (±SD) at diagnosis of 8.81 ± 5 years. The most common clinical manifestation was recurrent pneumonia (four patients), followed by persistent cough and wheezing (three patients). The average duration of symptoms before diagnosis was 12.8 months ± 12.2 months. Histopathological diagnoses were typical carcinoid tumors (n = 2), atypical carcinoid tumors (n = 2), inflammatory myofibroblastic tumors (n = 2), congenital peribronchial myofibroblastic tumor (n = 1), myoepithelial carcinoma (n = 1), and pleuropulmonary blastoma (n = 1). Radical surgery resulted in complete response for seven patients, with a median follow-up of 52 months (IQR 39 months). The myoepithelial carcinoma was treated with multimodal therapy, relapsed after 17 months, and adjuvant chemotherapy is currently ongoing. Neoadjuvant chemotherapy for the pleuropulmonary blastoma is currently ongoing. Conclusions: Primary lung tumors in children, though rare, may have favorable outcomes when appropriately managed. Nonspecific clinical presentations often contribute to diagnostic delays. This study highlights the critical need of thorough evaluation in cases of persistent, therapy-resistant aspecific respiratory symptoms. Early diagnosis, coupled with complete surgical resection, significantly improves prognosis.

Background: In pediatric age, the central airways are more flexible and mobile, with tracheal and bronchial walls easily tending to collapse, allowing partial or complete occlusion of the lumen: a situation described as tracheobronchomalacia (TBM). This is a condition that causes an increase in intrathoracic pressure that may accentuate airway collapse, and a biphasic or barking cough appears. Objectives: Although TBM is relatively frequent in pediatric age, the diagnostic criteria and subsequent treatment do not follow well-standardized criteria and often vary from pediatric center to center. Therefore, there is a need to standardize diagnostic procedures and the resulting medical or surgical treatments. Methods: We therefore organized a day of meetings to talk about TBM, inviting all Italian pediatricians and pediatric surgeons who diagnose and treat patients with this pathology on a daily basis. Results: This work, collecting all the meeting interventions, is a compendium that deals with all aspects of TBM, emphasizing the most correct criteria to diagnose and therefore best treat each pediatric patient with this clinical condition. We give particular emphasis to the need to perform static and dynamic videobronchoscopy (S/DVBS) to verify the patency of the tracheal lumen, so as to evaluate the severity of TBM. Conclusions: this work deals with TBM in all its diagnostic and treatment aspects and can be a valid help for all pediatricians who treat these patients.

Background: In pediatric age, the central airways are more flexible and mobile, with tracheal and bronchial walls easly tending to collapse, allowing partial or complete occlusion of the lumen: a situation described as tracheobronchomalacia (TBM). Any condition that causes an increase in intrathoracic pressure are situations in which airway collapse is accentuated and biphasic or barking cough appears. Objectives: Although the situation of TBM is relatively frequent in pediatric age, the diagnostic criteria and subsequent treatment do not follow well-standardized criteria, and often vary from pediatric center to center. Therefore, there is a real need to standardize diagnostic procedures and the resulting medical or surgical treatments. Methods: We therefore organized a day of meeting to talk about TBM, inviting from all Italy pediatricians and pediatric surgeons that diagnose and treat patients with this pathology on daily basis. Results: This work, collecting all the meeting interventions, is a compendium that truly deals with TBM in all its aspects, emphasizing above all the most correct criteria to diagnose and therefore best treat each individual pediatric patient with such clinical condition. We give particular emphasis to the need to perform static and dynamic videobronchoscopy (S/DVBS) to verify the patency of the tracheal lumen, so as to evaluate the severity of TBM, when the patient increases intrathoracic pressure. Conclusion: this work deals with TBM in all its diagnostic and treatment aspects and can be a valid help for all pediatricians who treat this pathology.