Keywords:
Paediatric, Lung, Thorax, CT, CT-High Resolution, Diagnostic procedure, Genetic defects
Authors:
P. Spinnato1, C. Gasperini1, A. Bartoloni2, G. Facchini1, C. Tetta1, D. Mercatelli1, M. P. Aparisi Gomez3, P. Toma2, A. Bazzocchi1; 1Bologna/IT, 2Rome/IT, 3Auckland/NZ
DOI:
10.26044/ecr2019/C-3313
Aims and objectives
Neurofibromatosis type 1 (NF-1) is an autosomal-dominant disease that occurs with a prevalence of one on 3000,
although 50% of cases are due to spontaneous mutations [1].
Most common clinical manifestation include “cafè au lait” skin macules,
cutaneous and central nervous system tumours.
The most common thoracic manifestations of NF-1 are cutaneous and subcutaneous neurofibromas on the chest wall,
but they can also be skeletal and pulmonary [2].
Lung involvement usually occurs as diffuse lung disease (DLD) and it has been described mainly in adults (about 20% of patients) [3].
The disease is generally characterized by basilar fibrosis and/or upper lobes air-filled lesions such as bullae,
blebs or cysts [4].
Symptomatic patients usually present with dyspnoea on exertion; pulmonary function tests show either an obstructive or a restrictive pattern [4].
Sub-pleural air-filled lesions represent a risk for pneumothorax which could be the first clinical manifestation of the disease [5].
To our knowledge,
only one case of DLD in association with NF-1 in a young-adult patient has been reported in literature (16 years old) [5].
One paediatric patient has been recently reported in the literature as a case report by our research group and it is inserted in this study [6] (Fig.
1).
The overall prevalence and clinical characteristics of NF with diffuse lung disease (NF-DLD) in the paediatric population remain unclear.
Moreover,
DLD as a consequence of neurofibromatosis was recently disputed [7].
The purpose of the present study is to determine the prevalence and features at computed tomography (CT) of this disease in the paediatric population.