Author/Authors :
KARAMI, Hosseni Pediatric Hematology & Oncology Department - Thalassemia Research Center (TRC) - Hemoglobinopathy Institute - Mazandaran University of Medical Sciences - Sari, Iran , GHASEMI, Maryam Immunogenetics Research Center - Faculty of Medicine - Mazandaran University of Medical Sciences - Sari, Iran , TAHERI, Amirmasoud Medical Student- Faculty of Medicine - Mazandaran University of Medical Sciences - Sari, Iran , ROSTAMKOLAIE e, Faria Medical Student- Faculty of Medicine - Mazandaran University of Medical Sciences - Sari, Iran , ABBASKHANIAN, A Pediatrics Neurology - Clinical Research Development Unit of Bu-Ali Sina Hospital - Mazandaran University of Medical Sciences - Sari, Iran , NADERISORKI, Mohammad Pediatric Hematology & Oncology Department - Thalassemia Research Center (TRC) - Hemoglobinopathy Institute - Mazandaran University of Medical Sciences - Sari, Iran
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.
Keywords :
Child , Superior vena cava syndrome , Mediastinal mass , Neurofibromatosis type 1
