AB035. Neurofibromatosis as a cause of cystic lung disease

Abstract: Von Recklinhausen’s disease or neurofibromatosis (NF) type 1 is an autosomal dominant dysplasia of ectoderm and mesoderm with a variable clinical expression characterized by collections of neurofibromas, café-au-lait spots and pigmented hamartomas in the iris (Lish nodules) (Riccardi VM et al.). The description of a case with Neurofibromatosis and lung cysts. A male 64-year-old, smoker 50 p/y, was referred to the outpatient clinic of our pulmonary unit, with a pathological chest X-ray. He also had an arterial hypertension and pneumothorax 2 years ago (medical history). There was no family history for Neurofibromatosis. The patient mentioned exercise dyspnea (MRC1) and wheezing for 30 years but not a chronic cough. Chest wall, neck and face inspection presented extended neurofibromas but he never had a diagnosis of NF. Chest wall auscultation presented diminished vesicular sounds. Chest X-ray presented fine reticular opacities on right and left lung basal segments. Chest CT High Resolution presented centrilobular emphysema, large subpleural thin-walled cysts, limited fibrous and thickness of pleura on apical segments and lower lobes, linear atelectasis on basal segments and multiple chest wall’s subcutaneous nodules. Spirometry had an obstructive pattern, TLCO was 71.3% and the values of plethysmography were Rtot =116%, SRtot =178%, ITGV =161%, RV =182%, TLC =113%. We recommended smoking cessation, thoracic surgery evaluation and medical treatment with LAMA. NF has a prevalence of 1/3,000 and in 30–50% there is no family history. In NF, the thorax and lungs can be affected in several ways such as cutaneous and subcutaneous neurofibromas on the chest wall, ribbon deformity of the ribs, kyphoscoliosis, thoracic neoplasms and interstitial lung disease. In the results of a literature review, the average age of patients studied was 50 yr (69% males and 31% females), frequent symptoms were dyspnea (80%) and cough (32%), less had chest pain (5%) and 11% were asymptomatic. Spirometry results were: 43% obstructive, 37% restrictive and 17% had a mixed pattern. DLCO was most of time decreased (94%). HRCT revealed emphysema (25%), cysts (25%), bullae (50%), groundglass (37%) and interstitial abnormalities (50%). Smoking is considered a risk factor for the development and severity of lung disease associated with NF (Zamora AC et al.). It is of particular importance to understand the pathobiology of NF that will lead to future therapies for this rare but highly morbid condition.

Keywords: Lung cysts; neurofibromatoasis (NF); respiratory system