Giant Mediastinal Mass in a 3-year-old Boy: A Rare Presentation of Neurofibromatosis Type I

Overview

Journal Iran J Child Neurol

Specialty Pediatrics

Date 2021 Nov 16

PMID 34782848

Authors

Hosseni Karami

Maryam Ghasemi

Amirmasoud Taheri

Faria Rostamkolaie

Ali Abbaskhanian

Mohammad Naderisorki

Affiliations

Soon will be listed here.

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.

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