Assuntos
Neoplasias Cerebelares , Meduloblastoma , Segunda Neoplasia Primária , Criança , Humanos , Meduloblastoma/diagnóstico por imagem , Meduloblastoma/cirurgia , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/cirurgia , Neoplasias Cerebelares/patologia , Período Pós-OperatórioAssuntos
Sarcoma , Humanos , RNA Helicases DEAD-box/genética , Mutação , Ribonuclease III/genética , Feminino , AdolescenteRESUMO
The opioid epidemic has become a significant public health crisis worldwide. With the rise in popularity of fentanyl, opioid overdoses continue to rise at unprecedented rates. Unfortunately, young children have become collateral damage in the face of the opioid epidemic. Accidental exposures and ingestions are the leading cause of opioid overdose in this age group and can result in significant acute complications, long-term sequelae and even death. We present the case of a toddler with accidental fentanyl ingestion who experienced seizures and required intubation for respiratory distress. He was found to have notable diffusion restriction cerebellar changes on MRI and ultimately discharged with normal neurological function. Our case adds to the growing literature of the clinical presentation and neuroimaging features associated with opioid toxicity in young children.
Assuntos
Overdose de Opiáceos , Masculino , Humanos , Pré-Escolar , Neuroimagem , Progressão da Doença , Analgésicos Opioides , FentanilaAssuntos
Astrocitoma , Neoplasias Encefálicas , Neoplasias Supratentoriais , Humanos , Adolescente , Proteínas Proto-Oncogênicas B-raf/genética , Astrocitoma/diagnóstico por imagem , Astrocitoma/genética , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Mutação , Fosfotransferases (Aceptor do Grupo Álcool)/genéticaAssuntos
Neoplasias do Sistema Nervoso Central , Ependimoma , Neoplasias Neuroepiteliomatosas , Humanos , Adolescente , Neoplasias Neuroepiteliomatosas/genética , Fatores de Transcrição/genética , Ependimoma/genética , Ependimoma/cirurgia , Fusão Gênica , Proteínas Repressoras/genética , Fatores de Transcrição Kruppel-Like/genética , Proteína EWS de Ligação a RNA/genéticaRESUMO
We present 4 children (diagnosed between 1 and 8 y, 3 females and 1 male) with molecularly distinct tectal gliomas (2 KRAS mutant, 1 EGFR mutant, 1 SRGAP3-RAF-1 fusion) that contributes to the growing literature of this uncommonly biopsied tumor. The patient with EGFR R222C mutation had a more severe course, earlier diagnosis, subsequent leptomeningeal metastatic disease, required more aggressive therapies, and died 9 years after diagnosis. Patients with KRAS mutations and SRGAP3-RAF-1 fusion had a more indolent course. Our series expands the molecular phenotype of tectal glioma with the potential for leptomeningeal dissemination. Future studies on establishing genotypic/phenotypic correlation from those who undergo biopsy are needed.
