Niemann-Pick's disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1975-12

AUTHORS

Vincent da Silva, Franco Vassella, Albert Bischoff, Max Spycher, Ulrich N. Wiesmann, Norbert Herschkowitz

ABSTRACT

A diagnosis of Niemann-Pick disease type A was made in a 6-month-old boy on the grounds of progressive psychomotor retardation, hepatosplenomegaly, typical foam cells in the bone marrow and a deficiency of sphingomyelinase in a liver biopsy. Typical ultrastructural changes in lysosomes were found in hepatocytes and in Schwann cells. In spite of the absence of gross morphological changes in the axons and in the myelin sheath of the peripheral nerve biopsy, the nerve conduction velocity in the patient was greatly reduced. The ultrastructural aspect of the lysosomal inclusion suggested the storage of a phospholipid. Biochemical analysis of the liver biopsy demonstrated an increased content of total phospholipid of which sphingomyelin made up for more than 60%. The significance of these data are discussed. More... »

PAGES

61-68

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00312464

DOI

http://dx.doi.org/10.1007/bf00312464

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1038357786

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/56432


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