A Hemorrhagic Brain Mass in a Child With Encephalocraniocutaneous Lipomatosis-Reference-Cited by-同舟云学术

A Hemorrhagic Brain Mass in a Child With Encephalocraniocutaneous Lipomatosis

Published:2024-08-27 Issue: Volume: Page:
ISSN:1077-4114
Container-title:Journal of Pediatric Hematology/Oncology
language:en
Short-container-title:

Author:

Hall Erin¹^ORCID,Perez Francisco A.²,Cole Bonnie³,Paulson Vera³,Leary Sarah⁴⁵,Ronsley Rebecca⁴⁵^ORCID

Affiliation:

1. Department of Pediatrics, Seattle Children’s Hospital, University of Washington

2. Department of Radiology, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX

3. Department of Laboratory Medicine and Pathology, University of Washington

4. Division of Hematology, Oncology, and Bone Marrow Transplant, Department of Pediatrics, Seattle Children’s Hospital

5. Seattle Children’s Research Institute and Ben Towne Center for Childhood Cancer Research, Seattle, WA

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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