Neurofibromatosis type 1: evaluation by chest computed tomography.

Area of Science:

• Radiology
• Pulmonology
• Genetics

Background:

• Neurofibromatosis type 1 (NF1) is a genetic disorder with diverse clinical manifestations.
• Diffuse lung disease (NF-DLD) is a recognized complication in NF1 patients.
• Chest imaging characteristics of NF-DLD require further elucidation.

Purpose of the Study:

• To evaluate chest computed tomography (CT) findings in patients with neurofibromatosis type 1 (NF1).
• To identify characteristic CT features associated with neurofibromatosis-associated diffuse lung disease (NF-DLD).

Main Methods:

• Retrospective review of chest CT scans from 14 patients diagnosed with NF1 and NF-DLD.
• Analysis by two experienced chest radiologists using consensus decision-making.
• Patient demographics included 8 women and 6 men, with a median age of 55 years.

Main Results:

• Multiple pulmonary cysts were the predominant finding (92.9%), followed by emphysema (57.1%) and subpleural bullae (42.9%).
• Subcutaneous neurofibromas were present in 85.7% of patients.
• Pulmonary abnormalities were bilateral (85.7%), predominantly in upper lung fields (57.1%), with random distribution (78.6%).

Conclusions:

• Pulmonary cysts, emphysema, and subpleural bullae are the most characteristic chest CT findings in NF-DLD.
• These imaging features aid in the diagnosis and management of lung complications in NF1 patients.