Niemann Pick c or storage by excessive blood cell destruction: a case presenting a diagnosis problem.
A case of storage disease followed up during 12 a was studied by morphological, histochemical, immunological, and biochemical techniques. Data were analysed in an attempt to differentiate an acquired storage by excessive cell degradation from a storage of genetic origin. If, as it is our belief, a conclusion of acquired storage can be made, this observation in which the same cholesterol metabolism abnormalities as in Niemann Pick type C were seen, leads to a rediscussion of their diagnostic significance.
Lageron
A
A
INSERM Paris.
Mazière
J C
JC
Gane
P
P
Goossens
D
D
Roy
C
C
D001773:Blood Cells / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology; D002240:Carbohydrate Sequence; D002241:Carbohydrates / Q000032:analysis; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D006867:Hydrolases / Q000032:analysis; D037102:Lectins / Q000378:metabolism; D007962:Leukocytes / Q000378:metabolism; D008099:Liver / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000473:pathology; D008264:Macrophages / Q000737:chemistry; D008297:Male; D008969:Molecular Sequence Data; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000473:pathology*; D013154:Spleen / Q000473:pathology
D002241:Carbohydrates; D037102:Lectins; D002784:Cholesterol; D006867:Hydrolases