Lung disease in Niemann-Pick disease

Pediatr Pulmonol. 2007 Dec;42(12):1207-14. doi: 10.1002/ppul.20725.


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.

MeSH terms

  • Biopsy
  • Bronchoalveolar Lavage
  • Bronchoalveolar Lavage Fluid / cytology
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Lung Diseases, Interstitial / diagnosis
  • Lung Diseases, Interstitial / etiology*
  • Lung Diseases, Interstitial / physiopathology
  • Male
  • Niemann-Pick Diseases / complications*
  • Prognosis
  • Radiography, Thoracic
  • Respiratory Function Tests
  • Severity of Illness Index