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 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.
Palmeri
S
S
Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
Tarugi
P
P
Sicurelli
F
F
Buccoliero
R
R
Malandrini
A
A
De Santi
M M
MM
Marcianò
G
G
Battisti
C
C
Dotti
M T
MT
Calandra
S
S
Federico
A
A
D000293:Adolescent; D018893:Bronchoalveolar Lavage; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002908:Chronic Disease; D005487:Foam Cells / Q000473:pathology*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008171:Lung Diseases / Q000150:complications* / Q000473:pathology / Q000628:therapy*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000235:genetics; D016896:Treatment Outcome
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein