Neurofibromatosis type 1: evaluation by chest computed tomography

Abstract

Objective: The aim of this study was to evaluate chest computed tomography (CT) findings in patients diagnosed with neurofibromatosis type 1 (NF1). Material and Methods: This was a retrospective study in which we reviewed the chest CT scans of 14 patients diagnosed with NF1 and neurofibromatosis-associated diffuse lung disease (NF-DLD). The sample comprised eight women and six men. The median age was 55 years (range, 11-75 years). The diagnosis of NF1 was made on the basis of the diagnostic criteria established by the U.S. National Institutes of Health. The images were analyzed by two chest radiologists, who reached decisions by consensus. Results: The predominant CT finding of NF-DLD was multiple cysts, which were observed in 13 patients (92.9%), followed by emphysema, in eight (57.1%) and subpleural bullae, in six (42.9%). Other findings included subcutaneous neurofibromas, in 12 patients (85.7%), ground-glass opacities, in one (7.1%), and tracheobronchial neurofibromas, in one (7.1%). The pulmonary abnormalities were bilateral in 12 cases (85.7%). The abnormalities were predominantly in the upper lung fields in eight cases (57.1%), and their distribution was random in 11 (78.6%). Conclusion: Pulmonary cysts, emphysema, and subpleural bullae appear to be the chest CT findings that are most characteristic of NF-DLD.

Neurofibromatosis type 1 with huge intrathoracic meningoceles ： A case report and literature review

“…In this particular case, the patient had a long history of NF-1 disease spanning over 30 years. Among patients with NF-1, there are variations in the clinical presentation, often accompanied by thoracic involvement such as intrathoracic neuro broma, intrathoracic meningoceles, spinal deformities, cysts, emphysema, subpleural bullae, interstitial pneumonia, and more [12,13]. Follow-up examinations have shown that lung involvement is more likely to occur in the advanced stages of NF-1, typically in patients in their thirties and forties.…”