A5053887015- Fetal and Pediatric Neurological Disorders
- Cerebrospinal fluid and hydrocephalus
- Parvovirus B19 Infection Studies
- Glioma Diagnosis and Treatment
- Vestibular and auditory disorders
- Tumors and Oncological Cases
- Long-Term Effects of COVID-19
- Head and Neck Surgical Oncology
- Meningioma and schwannoma management
- Chromatin Remodeling and Cancer
- COVID-19 and healthcare impacts
- Histiocytic Disorders and Treatments
- Neonatal and fetal brain pathology
- Vascular Malformations Diagnosis and Treatment
- Advanced Neuroimaging Techniques and Applications
- Neurofibromatosis and Schwannoma Cases
Meyer Children's Hospital
2021-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2023-2024
University of Florence
2022-2023
<b><i>Introduction:</i></b> Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm that affects patients, predominantly males aged 40–70 years, with very heterogeneous clinical presentation and prognosis. In 2020, Goyal et al. proposed consensus recommendations for the management of patients ECD, remarking on exceptional in pediatric population. <b><i>Case Presentation:</i></b> The first patient, 20-year-old male, underwent cervical...
We report the case of a 16-year-old girl presenting with spinal clear-cell multiple meningiomas (CCMs). In view this presentation, we sequenced bioinformatic panel genes associated susceptibility to meningioma, identifying germline heterozygous variant in SMARCE1. Somatic DNA investigations CCM demonstrated deletion wild-type allele (loss heterozygosity, LOH), supporting causative role variant. Family segregation study detected SMARCE1 asymptomatic father and sister who, nevertheless,...