脑颅皮肤脂肪瘤病患儿的出血性脑肿块

IF 0.9 4区医学 Q4 HEMATOLOGY

Journal of Pediatric Hematology/Oncology Pub Date : 2024-10-01 Epub Date: 2024-08-27 DOI:10.1097/MPH.0000000000002947

Erin Hall, Francisco A Perez, Bonnie Cole, Vera Paulson, Sarah Leary, Rebecca Ronsley

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引用次数: 0

摘要

脑颅皮肤脂肪瘤病（ECCL）是一种罕见的遗传性疾病，皮肤、眼部和中枢神经系统均有明确的症状。已有多份病例报告显示，ECCL 患者体内存在低级别胶质瘤，并且与某些 FGFR1 基因突变有关。我们报告了一例弥漫性低级别胶质瘤病例，ECCL 患者的丝裂原活化蛋白激酶通路发生了改变，并发现其存在明显的 FGFR1 基因突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A Hemorrhagic Brain Mass in a Child With Encephalocraniocutaneous Lipomatosis.

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.

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来源期刊

Journal of Pediatric Hematology/Oncology 医学-小儿科

CiteScore

1.90

自引率

8.30%

发文量

415

审稿时长

2.5 months

期刊介绍： Journal of Pediatric Hematology/Oncology (JPHO) reports on major advances in the diagnosis and treatment of cancer and blood diseases in children. The journal publishes original research, commentaries, historical insights, and clinical and laboratory observations.