Is neurofibromatosis type 1 diagnosed in every patient who presents with café au lait macules? A single-center experience

Author:

EKER Nursah1ORCID,TOKUC Ayse Gulnur1ORCID,TAS TUFAN Burcu1ORCID,SENAY Emel1ORCID

Affiliation:

1. MARMARA UNIVERSITY

Abstract

Objective: Neurofibromatosis type 1 (NF1) is the most common hereditary neurocutaneous syndrome. The most crucial morbidity of NF1 is tumors that may develop. Cases with café-au-lait macules (CALMs) which is the first clinical finding of NF1, due to the anxiety of its associated morbidity, are referred to the pediatric oncology clinic. In this study, we aimed to examine the characteristics of the patients who applied to our outpatient clinic with CALMs. Patients and Methods: The data of 157 pediatric patients who applied to our institution with the diagnosis of CALMs between June 2010 and November 2020 were analyzed retrospectively. Results: There were 157 pediatric cases referred to us for CALMs. According to the National Institutes of Health (NIH) diagnostic criteria, 109 (69.4%) cases were diagnosed with NF1. The diagnosis of 22 cases with NF1 were supported by genetic examination. Optic glioma was detected in 39 (24.8%) cases. In 15 (38.4%) of cases with optic glioma, visual functions were also affected. Second diagnostic criterion did not develop during the follow-up period, except for macules, in 48 cases (30.5%). Conclusion: In cases with multiple CALMs, the probability of NF1 diagnosis is high, and close and regular follow-up is of great importance in catching the development of the second clinical criterion and minimizing its morbidity.

Publisher

Marmara University

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3