ABSTRACT
Bronchiolitis is an acute viral infection of the lower respiratory tract that affects infants and young children. Respiratory syncytial virus (RSV) is the most common causative agent; however, other viruses can be involved in this disease. We retrospectively reviewed the clinical features of infants aged less than 12 months hospitalized for acute bronchiolitis in our Pediatric Units of Chivasso, Cirié, and Ivrea in Piedmont, Northern Italy, over two consecutive bronchiolitis seasons (September 2021-March 2022 and September 2022-March 2023). Patient-, disease-, and treatment-related variables were analyzed. The probability of therapeutic success (discharge home) was 96% for all patients (93% for RSV vs. 98% for non-RSV patients, p > 0.05). Among 192 patients, 42 infants (22%) underwent high-flow oxygen support (HFNC), and only 8 (4%) needed to be transferred to our hub referral hospital. Factors associated with hub hospital transfer were the age under 1 month and the failure of HFNC. The wide and increasing use of HFNC in pediatric inpatients improved the management of bronchiolitis in Spoke hospitals, reducing transfer to a hub hospital provided with Intensive Care Units.
ABSTRACT
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition characterized by hyperinflammation in an uncontrolled and ineffective immune response. Despite great improvement in diagnosis and treatment, it still represents a challenge in clinical management, with poor prognosis in the absence of an aggressive therapeutic approach. The present literature review focuses on secondary HLH at pediatric age, which represents a heterogeneous group in terms of etiology and therapeutic approach. It summarizes the most recent evidence on epidemiology, pathophysiology, diagnosis, treatment and prognosis, and provides a detailed description and comparison of the major subtypes of secondary HLH. Finally, it addresses the open questions with a focus on diagnosis and new treatment insights.
ABSTRACT
Neurological manifestations of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection have been reported in adults and in children, varying from mild to more debilitant symptoms, including fatigue, headache and dizziness. A series of studies have revealed a possible association between Guillain-Barré syndrome (GBS), the most common cause of acute flaccid paralysis at all ages, and SARS-CoV-2 infection. Case reports of novel coronavirus disease 2019 (COVID-19)-associated GBS mainly include adult patients, while only a few pediatric cases have been reported. The present study describes a case of GBS in an Italian 9-year-old girl with previous SARS-CoV-2 infection as a possible trigger, and also conducts a literature review on pediatric COVID-19-associated GBS cases.
ABSTRACT
BACKGROUND: Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofibromatosis type 1 have been described, it has not yet been clarified whether Jaffe-Campanacci syndrome represents a distinct entity or it can be regarded as a neurofibromatosis type 1 subtype. CASE PRESENTATION: The patient here described is a young boy, who fulfilled the clinical diagnostic criteria for both syndromes. He had a complex clinical history with café-au-lait macules, axillary and inguinal freckling, multiple non-ossifying fibromas, giant-cell granuloma of the jaw, neurofibromas, plexiform fibroma, ocular Lisch nodules, optic chiasmatic- hypothalamic glioma, pseudarthrosis, scoliosis, short stature, vascular anomalies, seizures. Molecular analysis of the NF1 gene both on blood cells and non-ossifying fibroma's biopsy tissue allowed the detection of a novel variant within the coding region, NM_000267.3:c.2789_2791delATC(p.Tyr930_Pro931delinsSer), with loss of heterozygosity (second hit mutation) in the non-ossifying fibroma. CONCLUSION: This result indicates that every patient with clinical features of Jaffe-Campanacci syndrome should be further evaluated to detect features related to neurofibromatosis type 1 and genetically investigated for mutations in the NF1 gene, since this could lead to a definite diagnosis, but also could clarify and quantify the real genotype-phenotype overlap between neurofibromatosis type 1 and Jaffe-Campanacci syndrome.
