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J Pediatr Hematol Oncol. 2024 Aug 27. doi: 10.1097/MPH.0000000000002947. Online ahead of print.
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.
PMID:39196641 | DOI:10.1097/MPH.0000000000002947
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