S. PalmeriP. TarugiF. SicurelliR. BuccolieroA. MalandriniM.M. De SantiG. Marcianò C. BattistiM.T. DottiS. CalandraA. Federico Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

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 dis- ease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifes- tations. Bronchoalveolar lavage of a lung segment due to deteriorating respiratory condition revealed many foamy macrophages and was followed by an improvement in symp- toms. Pneumopathy may therefore be considered a feature of NPC1 disease for which a partial bronchoalveolar lavage could be a useful treatment.