Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

Neurol Sci. 2005 Jul;26(3):171-3. doi: 10.1007/s10072-005-0456-z.


Progressive lung infiltration is a major cause of death in Niemann-Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifestations. Bronchoalveolar lavage of a lung segment due to deteriorating respiratory condition revealed many foamy macrophages and was followed by an improvement in symptoms. Pneumopathy may therefore be considered a feature of NPC1 disease for which a partial bronchoalveolar lavage could be a useful treatment.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Bronchoalveolar Lavage*
  • Carrier Proteins / genetics
  • Child
  • Chronic Disease
  • Foam Cells / pathology*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Lung Diseases / complications*
  • Lung Diseases / pathology
  • Lung Diseases / therapy*
  • Male
  • Membrane Glycoproteins / genetics
  • Mutation
  • Niemann-Pick C1 Protein
  • Niemann-Pick Diseases / complications*
  • Niemann-Pick Diseases / genetics
  • Treatment Outcome


  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • Niemann-Pick C1 Protein