A Hemorrhagic Brain Mass in a Child With Encephalocraniocutaneous Lipomatosis.
J Pediatr Hematol Oncol
; 46(7): e541-e543, 2024 Oct 01.
Article
em En
| MEDLINE
| ID: mdl-39196641
ABSTRACT
Encephalocraniocutaneous lipomatosis (ECCL) is a rare genetic condition with well-described skin, ocular, and central nervous system findings. Several case reports have been documented demonstrating the presence of low-grade gliomas in patients with ECCL and the association with certain FGFR1 mutations. We report on a case of diffuse low-grade glioma, mitogen activated protein kinase pathway altered in a patient with ECCL, who was found to have a distinct FGFR1 mutation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Neurocutâneas
/
Lipomatose
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Ano de publicação:
2024
Tipo de documento:
Article