一名3岁男孩的巨大纵隔肿块：1型神经纤维瘤病的罕见表现。

Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I.

作者信息

Karami Hosseni, Ghasemi Maryam, Taheri Amirmasoud, Rostamkolaie Faria, Abbaskhanian Ali, Naderisorki Mohammad

机构信息

Pediatric Hematology & Oncology,Thalassemia Research Center (TRC), Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran.

pathology, Immunogenetics research center,Faculty of medicine, Mazandaran university of medical sciences, Sari, Iran.

出版信息

Iran J Child Neurol. 2021 Fall;15(4):109-113. doi: 10.22037/ijcn.v15i4.23846.

DOI:10.22037/ijcn.v15i4.23846

PMID:34782848

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8570624/

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease diagnosed with the presentation of café-au-lait macules, skinfold freckling, iris Lisch nodules, neurofibromas, osseous lesion, and optic gliomas. Mediastinal mass as the first presentation of NF1 is very rare, with a frequency of about 2.7%. Here, we present a rare case of NF1 in a 3-year-old boy admitted with respiratory distress and superior vena cava syndrome.

摘要

1型神经纤维瘤病（NF1）是一种常染色体显性疾病，通过咖啡斑、皮肤褶皱雀斑、虹膜Lisch结节、神经纤维瘤、骨病变和视神经胶质瘤等表现来诊断。纵隔肿块作为NF1的首发表现非常罕见，发生率约为2.7%。在此，我们报告一例罕见的NF1病例，患者为一名3岁男孩，因呼吸窘迫和上腔静脉综合征入院。