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 .
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 .
Lung involvement usually occurs as diffuse lung...
Methods and materials
We retrospectively analysed the spinal CT (using 'lung-window') and clinical reports of the paediatric patients younger than 18 years-old affected by NF-1 seen at our Institution for scoliosis assessment from 2004 to 2017.
The radiologist evaluated the presence/absence of lung disease,
and also the volumes of lung that were evaluable in the analysed spinal CT.
Seventeen paediatric patients that had undergone spinal CT for scoliosis (mean age=11.6,
range 3-17 years-old) were collected.
The entire lung volumes were completely evaluable in CT scans in 8/17 patients,
while in 9/17 patients it was possible to evaluate about 75% of total lung volume.
In 3/17 subjects (17.6% - ages 4,
13 and 14 years old) a condition of diffuse lung disease involvement was found.
In the 3 lung-affected patients the disease was characterized by subpleural air-filled...
The present study consolidates the hypothesis that diffuse lung involvement is a direct manifestation of NF-1.
our results highlight that early onset,
in childhood or adolescence,
is possible even though not clinically evident and the kind of lesions that can occur in the paediatric population (air-filled sub-pleural lesions in the upper lobes) may arise before fibrotic basilar involvement.
Thoracic Manifestations of Neurofibromatosis-I. Am J Roentgenol .
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Von Recklinghausen neurofibromatosis. N Engl J Med .
HRCT findings in the lungs of non-smokers with neurofibromatosis. Eur J Radiol .