title: Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick Type B disease with whole-lung lavage.
abstract: In Type B Niemann-Pick disease, progressive pulmonary infiltration is a major cause of morbidity and mortality, although the disease is usually diagnosed before adulthood in other organ systems. To date, no successful treatment of pulmonary involvement by Niemann-Pick disease has been documented. We describe the case of a patient with Niemann-Pick Type B disease who presented with extensive endogenous lipoid pneumonia and life-threatening hypoxia following bypass grafting for severe coronary artery disease. A surgical lung biopsy at the time of grafting revealed characteristic histology and ultrastructural features of Niemann-Pick disease, with confirmatory findings in biochemical studies. Because of the severity of the patient's symptoms, bilateral whole-lung lavage was undertaken, leading to symptomatic improvement, lessening of parenchymal opacification on high-resolution computed tomographic scanning, and a marked improvement in resting arterial oxygen tension while breathing air to 10.3 kPa from 8.4 kPa. Whole-lung lavage may be a potentially useful modality of treatment for patients with pulmonary involvement by Niemann-Pick Type B disease.
authors.affiliation: Department of Histopathology, Royal Brompton Hospital, London, United Kingdom. a.nicholson@rbh.nthames.nhs.uk
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Nicholson
authors.forename: Athol U
authors.initials: AU
authors.lastname: Wells
authors.forename: James
authors.initials: J
authors.lastname: Hooper
authors.forename: David M
authors.initials: DM
authors.lastname: Hansell
authors.forename: Andrea
authors.initials: A
authors.lastname: Kelleher
authors.forename: Cliff
authors.initials: C
authors.lastname: Morgan
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001706:Biopsy; D001784:Blood Gas Analysis; D018893:Bronchoalveolar Lavage / Q000295:instrumentation / Q000379:methods*; D003131:Combined Modality Therapy; D004417:Dyspnea / Q000209:etiology; D005541:Forced Expiratory Volume; D006801:Humans; D016676:Macrophages, Alveolar / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000209:etiology / Q000601:surgery; D009542:Niemann-Pick Diseases / Q000150:complications*; D011017:Pneumonia, Lipid / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy*; D013256:Steroids; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014797:Vital Capacity
chemical_list: D000893:Anti-Inflammatory Agents; D013256:Steroids