Niemann-Pick-like liver disease and reduced cholesterol esterification in fibroblasts of two male infants View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-05

AUTHORS

K. Kristjansson, M. J. Finegold, P. G. Pentchev, J. W. Belmont

ABSTRACT

Niemann-Pick disease type C (NPC) presents in about half of the cases in the newborn period with jaundice, hepato-splenomegaly, and a clinical pattern similar to neonatal hepatitis. The definitive diagnosis can in most instances be made by the appropriate biochemical testing of lipoprotein stimulated cholesteryl ester synthesis and cholesterol accumulation in cultured patient fibroblasts. We report two infants who by liver biopsy had classical findings of NPC and a cholesteryl ester synthesis level about 50% of the normal lower limit. On the other hand neither of these patients' fibroblasts showed any evidence of low density lipoprotein-induced cholesterol accumulation, precluding the possibility of a definitive diagnosis. These cases demonstrate the importance of the appropriate biochemical testing before final counseling is carried out. The possibility of our patients representing allelic or nonallelic variants of NPC are discussed. More... »

PAGES

347-351

References to SciGraph publications

  • 1980-01. Niemann-Pick disease in VIRCHOWS ARCHIV A PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/bf01956417

    DOI

    http://dx.doi.org/10.1007/bf01956417

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1053277655

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8033925


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