Elsevier

European Journal of Radiology

Volume 80, Issue 3, December 2011, Pages e520-e523
European Journal of Radiology

HRCT findings in the lungs of non-smokers with neurofibromatosis

https://doi.org/10.1016/j.ejrad.2010.11.033Get rights and content

Abstract

Purpose

Interstitial lung disease in neurofibromatosis (NF) has been disputed and attributed to smoking-related changes. The aim of this study was to describe HRCT findings in the lungs of non-smokers with NF.

Materials and methods

Six never-smokers with NF underwent lung HRCT. Two radiologists evaluated the HRCT scans and a final decision was reached by consensus. The HRCT scans were analyzed with regard to the number, size, location (upper, middle or lower lung zone) and distribution (peripheral and central) of lung cysts and the presence of ground-glass density centrilobular micronodules.

Results

All patients with NF had small (2–18 mm) thin wall cysts and upper-lobe predominant patchy areas of ground-glass density centrilobular micronodules. In five cases, there were 3–17 cysts and in one there were numerous (>100). Lung cysts were central (1), subpleural (1) and in both locations (4).

Conclusion

Interstitial lung disease in NF is not associated with smoking and may be entirely asymptomatic. HRCT may reveal small cysts, with barely perceptible walls therefore not representing emphysema and occasionally a minimal micronodular pattern of ground glass opacity. There was no radiologic evidence of lung fibrosis, honeycombing or severe bullous disease.

Introduction

Neurofibromatosis (NF) type I, known also as von Recklinghausen's disease is a relatively common familial disorder with a prevalence of about 1 in 3000. It is an autosomal condition affecting the ectoderm and mesoderm characterized by collections of neurofibromas, café-au-lait spots and pigmented hamartomas in the iris (Lish nodules) [1]. NF has variable manifestations in the thorax and lungs including intrathoracic neurogenic tumors, meningoceles, kyphoscoliosis, ribbon deformity of the ribs, cutaneous and subcutaneous neurofibromas of the chest wall and interstitial lung disease (ILD) [2]. The association of neurofibromatosis with diffuse lung disease and severe bullous disease has been described, but its severity and prevalence remain obscure [2]. Moreover, interstitial lung disease as a consequence of neurofibromatosis was recently disputed; ILD has been completely attributed to smoking related changes rather than neurofibromatosis induced lung changes [2]. The purpose of this study was to describe the HRCT findings of lung involvement in never-smokers with neurofibromatosis type I.

Section snippets

Materials and methods

Six of 7 patients with type I neurofibromatosis followed in neurology and neurosurgery outpatient clinics at our hospital were never smokers, and comprised the patients studied. They underwent HRCT of the chest to determine possible lung involvement secondary to neurofibromatosis. The diagnosis of neurofibromatosis was established according to published diagnostic criteria [3]. None had respiratory symptoms and all had a normal chest radiograph. The ethics committee approved this study and

Results

All six non-smoking patients with neurofibromatosis type I (four females and two males, mean age 39-year old, age range: 23–61) had small lung cysts (Table 1). The cysts had an extremely thin, barely perceptible, yet well-defined, wall. They were small in size ranging from 2 to 18 mm, with the majority ranging from 2 to 5 mm. In five cases the cysts were few in number (3 cysts in one, 5 cysts in 2, 9 cysts in one and 17 cysts in one patient), while in one case the cysts were numerous (more than

Discussion

Since 1963 when Davies [5] first reported an association of NF with ILD, there have been a number of surveys and case studies supporting a co-occurrence of pulmonary fibrosis in 10–20% of NF patients [5]. In some cases NF-associated ILD was an incidental finding, but in most the patients had dyspnea on exertion. Pulmonary function tests showed either a restrictive or an obstructive defect accompanied by a decreased diffusing capacity of the lung for carbon monoxide (DLCO) [1]. Chest radiography

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