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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares