Lung disease in Niemann-Pick disease.
BACKGROUND
Lung involvement in children with Niemann-Pick disease has rarely been studied systematically.


OBJECTIVE
To assess the involvement of the lung and the value of bronchoalveolar lavage in children with Niemann-Pick diseases.


METHODS
Retrospective analysis of patient records.


METHODS
Thirteen patients, with type A (n = 1), type B (n = 10), and type C (n = 2) Niemann-Pick disease, aged 2 months to 9 years at diagnosis, were included in the study.


METHODS
Lung involvement was assessed by clinical evaluation, chest radiograph, lung computed tomography (CT) scan, pulmonary function tests, and bronchoalveolar lavage fluid analysis.


RESULTS
Respiratory symptoms were present at diagnosis in 10 patients and developed during follow up in the three other patients. All patients showed signs of interstitial lung disease on chest X-ray and lung CT scan. Bronchoalveolar lavage fluid analysis (n = 7) revealed a marked accumulation of foamy macrophages (Niemann-Pick cells) in all patients. At follow up, one patient died of respiratory failure, five patients required long term oxygen therapy and seven other patients presented a chronic obstructive pulmonary disease (n = 6) or chronic cough (n = 1).


CONCLUSIONS
Lung disease was observed in all the patients included in the present study. Bronchoalveolar lavage may be useful in Niemann-Pick diseases by showing the presence of characteristic Niemann-Pick cells.
Guillemot
Nathalie
N
AP-HP, Hopital Armand Trousseau, Pediatric Pulmonary Department, Paris, France.
Troadec
Corinne
C
de Villemeur
Thierry Billette
TB
Clément
Annick
A
Fauroux
Brigitte
B
D001706:Biopsy; D018893:Bronchoalveolar Lavage; D001992:Bronchoalveolar Lavage Fluid / Q000166:cytology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D017563:Lung Diseases, Interstitial / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D009542:Niemann-Pick Diseases / Q000150:complications*; D011379:Prognosis; D013902:Radiography, Thoracic; D012129:Respiratory Function Tests; D012720:Severity of Illness Index