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.
Objetivo: O objetivo deste estudo foi avaliar os achados pulmonares na tomografia computadorizada do tórax de pacientes diagnosticados com neurofibromatose tipo 1 (NF1).
Materiais e métodos: Foram revisados, retrospectivamente, os achados tomográficos de 14 pacientes com doença pulmonar difusa associada à NF1 (NF-DPD). A amostra incluiu oito mulheres e seis homens, com idade entre 11 e 75 anos (mediana de idade de 55 anos). O diagnóstico foi estabelecido com base em critérios diagnósticos predeterminados pelo National Institutes of Health dos Estados Unidos. As imagens foram analisadas de forma independente por dois radiologistas, que chegaram a um consenso.
Resultados: Os achados tomográficos predominantes foram múltiplos cistos em 13 pacientes (92,9%), enfisema em oito (57,1%) e bolhas subpleurais em seis (42,9%). Achados associados incluíram neurofibromas cutâneos e subcutâneos em 12 pacientes (85,7%), opacidades em vidro fosco em um (7,1%) e neurofibromas traqueobrônquicos em um (7,1%). As anormalidades pulmonares foram bilaterais em 12 casos (85,7%). Houve predomínio nos terços superiores em oito (57,1%) pacientes e se distribuíram randomicamente pelos pulmões em 11 (78,6%).
Conclusão: Os achados tomográficos pulmonares mais frequentes na NF-DPD foram os cistos pulmonares, o enfisema e as bolhas subpleurais.
Keywords: Cysts; Lung diseases; Neurofibromatoses; Tomography; X-ray computed.