Mediastinal Plexiform Neurofibroma Presenting as Asthma in a Patient with Neurofibromatosis Type 1: A Case Report

Plexiform neurofibroma (PN) is a pathognomonic feature of neurofibromatosis type 1 (NF1). When the clinical manifestations of NF1 are unrecognized and PN develops in deep anatomical locations, diagnosis may be delayed until the tumor is large enough to compress adjacent structures. We report a case of PN in which delayed recognition of NF1 led to years of misdiagnosis. A 27-year-old female with a history of poorly controlled asthma and a bizarre, lobulated opacity on chest X-ray had experienced respiratory symptoms since her early twenties, initially diagnosed with asthma at age 22. Despite multiple courses of antibiotics, bronchodilators, and steroids, her symptoms persisted. Computed tomography (CT) revealed a lobulated mass encasing the bronchial tree and pulmonary vessels, consistent with PN. The combination of a positive family history and a thorough physical examination is a cornerstone in the diagnostic process, ultimately establishing the diagnosis of NF1. This case underscores the crucial importance of a comprehensive clinical examination in the early recognition of PN and NF1.