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Giant cell tumors (GCTs) of the skull base are rare entities. Although considered histologically benign, GCTs are locally aggressive with a high rate of local recurrence. The present case describes a 14-year-old girl with a clival GCT who underwent long-term therapy with denosumab after local relapse. To our knowledge, it is the second case described with a follow-up term2 years from the start of denosumab and who did not receive any other adjuvant treatment besides denosumab. The patient achieved a local control of the disease. According to the few available data, radical excision with adjuvant therapy helps in long-term control in uncommon sites, such as the skull. However, the definitive treatment is still controversial because of their rarity and few follow-up data. The present case highlights the benefit of denosumab and its safety as long-term therapy and contributes to the existing literature with analysis and evaluation of the management strategies and prognosis.

Background Pheochromocytomas (PCCs) and paragangliomas (PGLs) are known to physicians as the “great mimickers” because of their variable presentation, especially in the pediatric population. Rarely, they co-secrete other hormones. Case presentation An 11-year-old boy presented with severe hypertension (HTN) with cardiac target organ damage. Signs of genital and cutaneous androgenization were observed, but the gonadal volume was prepubertal (2 mL). Urine normetanephrine and norepinephrine levels were elevated. Increased beta-human chorionic gonadotropin (β-HCG) and pubertal testosterone values with suppressed values of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) suggested an androgenization secondary to HCG hyperproduction. Imaging revealed a right adrenal mass, suggestive for PCC. Histopathology confirmed a PCC with positive staining for β-HCG. Postoperative resolution of symptoms of β-HCG and catecholamine excess and normalization of hormonal levels confirmed the diagnosis. Conclusions Ectopic hormone secretion from PCC is possible, even if rare. Signs and symptoms attributable to ectopic hormones should be investigated in PCC patients. To date, this is the first case of a β-HCG-secreting PCC.

Pediatric neck masses are a common occurrence and often represent a diagnostic challenge. The primary aim of this retrospective study was to evaluate the clinical and radiological features of neck masses in children and how they can drive diagnosis. The secondary aim was to create a diagnostic algorithm based on clinical features. We evaluated 190 children with neck masses who needed hospitalization. Clinical data and imaging findings were collected. The patients were divided into six groups: congenital/developmental lesions, tumors, acute and subacute lymphadenopathies, chronic nonspecific lymphadenopathies, cat-scratch disease, and mycobacteriosis. Reactive lymphadenopathies were observed in the majority of cases (65.8%). Congenital/developmental cysts were present in 28.9%, while 5.3% had a tumor. A lower mean age was observed for acute/subacute lymphadenopathies and mycobacteriosis. Fever and a painful mass were typical of acute/subacute lymphadenopaties and cat-scratch disease. A hard and fixed mass was not only typical of tumors. Concerning imaging findings, multiple lymph nodes at the same level was mainly observed in mycobacteriosis, while bilateral lymph node enlargement and colliquation were present in lymphadenopathies.Conclusion:A complete and adequate clinical assessment should be the basis for every diagnostic and therapeutic choice in children with neck masses. What is Known: • Pediatric neck masses are a common occurrence and often represent a diagnostic challenge. • Clinical features, serological exams and imaging findings should drive the physician to an appropriate diagnostic hypothesis. What is New: • A lower mean age was observed for acute/subacute lymphadenopathies and mycobacteriosis. • A hard and fixed mass was not only typical of tumors. • Multiple lymph nodes at the same level were mainly observed in mycobacteriosis, while bilateral lymph node enlargement and colliquation were present in nonspecific lymphadenopathies.

Background The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indicators that could be predictive of SHOX-D in children. Methods Molecular analysis of the SHOX gene was performed in 296 subjects with growth impairment or skeletal disproportion, without alternative diagnosis. Auxological variables and radiographs of the hand, wrist and forearm were evaluated. Results SHOX mutations (88% inherited, 12% de novo) were identified in 52 subjects. The most predictive auxological indicators of SHOX-D were an increased sitting height/height ratio and a decreased arm span/height ratio. The convexity of distal radial metaphysis at X-ray, not yet reported in literature, was also found to be predictive of SHOX-D. In young children, stratification of data by bone age also highlighted ulnar tilt, lucency of the ulnar border of the distal radius and enlarged radius as the radiological signs most related to SHOX-D . Conclusions In this study, the analysis of auxological and radiological indicators in SHOX-D children allowed to identify an additional early radiological sign and underlines the importance of family auxological evaluation.

Pulmonary lymphoid lesions span from benign to other forms of malignant diseases. Among these pulmonary lymphoid lesions, Nodular Lymphoid Hyperplasia (NLH) has an excellent prognosis. The surgical excision of NLH seems to be the only treatment, even if in some cases a spontaneous regression has been reported. Interestingly, these lesions may have similar clinical and radiographic presentations, making a histopathological examination vital for their differentiation. In this report we describe four cases of pediatric patients with a previous history of classical Hodgkin Lymphoma (HL) with documented or suspected NLH.

A 4-year old girl presenting gait difficulty was referred for spine X-ray and Magnetic Resonance Imaging (MRI). MRI showed several diffuse hypointense signals in sacral and lumbar vertebrae. In order to exclude a possible lymphoproliferative disease a 18-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG-PET/CT) was requested. The PET/CT scan confirmed the MRI findings and demonstrated additional findings in the sternum. Therefore, a bone marrow biopsy was performed and a diagnosis of acute lymphoblastic leukaemia - early B type was made.

Invasive aspergillosis is an uncommon but often lethal complication in immunocompromised patients. Despite the progress obtained with new antifungal drugs, intracranial aspergillosis often requires a combined medical and surgical approach. Most cases previously reported in immunocompromised children were fatal. We describe 4 immunosuppressed children with intracranial aspergillosis successfully treated with surgery and antifungal long-term therapy.