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...
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,
its characteristics,
and also the volumes of lung that were evaluable in the analysed spinal CT.
Results
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 lesions in the upper lobes (blebs in...
Conclusion
The present study consolidates the hypothesis that diffuse lung involvement is a direct manifestation of NF-1.
Furthermore,
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.
References
1.
Rossi SE,
Erasmus JJ,
McAdams HP,
Donnelly LF.
Thoracic Manifestations of Neurofibromatosis-I.
Am J Roentgenol.
1999;(173):1631-1638.
2. Riccardi VM.
Von Recklinghausen neurofibromatosis.
N Engl J Med.
1981;305(27):1617-1627.
3.
Oikonomou A,
Vadikolias K,
Birbilis T,
Bouros D,
Prassopoulos P.
HRCT findings in the lungs of non-smokers with neurofibromatosis.
Eur J Radiol.
2011;80(3):e520-e523.
4.
Zamora AC,
Collard HR,
Wolters PJ,
Webb WR,
King TE.
Neurofibromatosis-associated lung disease: A case series and literature review.
Eur Respir J.
2007;29(1):210-214.
5.
Nardecchia E,
Perfetti L,
Castiglioni M,
Di Natale...