Lung disease in Niemann-Pick disease


Lung disease in Niemann-Pick disease


Guillemot N; Troadec C; de Villemeur TB; Clement A; Fauroux B



Pediatric Pulmonology




Child; Female; Humans; Male; Prognosis; Severity of Illness Index; Biopsy; Preschool; infant; Q3 Literature Search; Diagnosis; Differential; Lung Diseases; Respiratory Function Tests; Bronchoalveolar Lavage; Bronchoalveolar Lavage Fluid/cytology; Interstitial/diagnosis/etiology/physiopathology; Niemann-Pick Diseases/complications; Radiography; Thoracic


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.


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Guillemot N; Troadec C; de Villemeur TB; Clement A; Fauroux B, “Lung disease in Niemann-Pick disease,” Pediatric Palliative Care Library, accessed May 26, 2024,