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 1642M 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.

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage / S., Palmeri; Tarugi, Patrizia Maria; F., Sicurelli; R., Buccoliero; A., Malandrini; MM De, Santi; G., Marciano; C., Battisti; Mt, Dotti; CALANDRA BUONAURA, Sebastiano; A., Federico. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-1874. - STAMPA. - 26(2005), pp. 171-173.

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