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

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...

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Autores principales: KARAMI, Hosseni, GHASEMI, Maryam, TAHERI, Amirmasoud, ROSTAMKOLAIE, Faria, ABBASKHANIAN, Ali, NADERISORKI, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570624/
https://www.ncbi.nlm.nih.gov/pubmed/34782848
http://dx.doi.org/10.22037/ijcn.v15i4.23846
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author KARAMI, Hosseni
GHASEMI, Maryam
TAHERI, Amirmasoud
ROSTAMKOLAIE, Faria
ABBASKHANIAN, Ali
NADERISORKI, Mohammad
author_facet KARAMI, Hosseni
GHASEMI, Maryam
TAHERI, Amirmasoud
ROSTAMKOLAIE, Faria
ABBASKHANIAN, Ali
NADERISORKI, Mohammad
author_sort KARAMI, Hosseni
collection PubMed
description 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.
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spelling pubmed-85706242022-01-01 Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I KARAMI, Hosseni GHASEMI, Maryam TAHERI, Amirmasoud ROSTAMKOLAIE, Faria ABBASKHANIAN, Ali NADERISORKI, Mohammad Iran J Child Neurol Case Report 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. Shahid Beheshti University of Medical Sciences 2021 /pmc/articles/PMC8570624/ /pubmed/34782848 http://dx.doi.org/10.22037/ijcn.v15i4.23846 Text en https://creativecommons.org/licenses/by/3.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/ (https://creativecommons.org/licenses/by/3.0/) ) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
KARAMI, Hosseni
GHASEMI, Maryam
TAHERI, Amirmasoud
ROSTAMKOLAIE, Faria
ABBASKHANIAN, Ali
NADERISORKI, Mohammad
Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I
title Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I
title_full Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I
title_fullStr Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I
title_full_unstemmed Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I
title_short Giant mediastinal mass in a 3-year-old boy: A rare presentation of neurofibromatosis type I
title_sort giant mediastinal mass in a 3-year-old boy: a rare presentation of neurofibromatosis type i
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570624/
https://www.ncbi.nlm.nih.gov/pubmed/34782848
http://dx.doi.org/10.22037/ijcn.v15i4.23846
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