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Pediatr Pulmonol. 2007 Dec;42(12):1207-14.

Lung disease in Niemann-Pick disease.

Author information

1
AP-HP, Hopital Armand Trousseau, Pediatric Pulmonary Department, Paris, France.

Abstract

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.

DESIGN:

Retrospective analysis of patient records.

PATIENTS:

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.

INTERVENTIONS:

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).

CONCLUSION:

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.

PMID:
17969000
DOI:
10.1002/ppul.20725
[Indexed for MEDLINE]

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