Open AccessNIEMANN‐PICK DISEASE ASSOCIATED WITH LIVER DISORDERS
Author(s) -
TAMARU Junichi,
IWASAKI Isao,
HORIE Hiroshi,
TAKAYANAGI Masaki,
OHTAKE Akira,
SHIMOJYO Naoki,
IDE Genshiro
Publication year - 1985
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1985.tb01017.x
Subject(s) - cirrhosis , pathology , medicine , liver biopsy , gastroenterology , biopsy
We report a case of Niemann‐Pick disease (NPD) with accumulation of sphingomyelin in reticuloendothelial system (RES), hepatocellular giant cell transformation (GCT), cirrhosis, and multiple hepatocellular adenomata in a 19‐month‐old girl. GCT, but no NP‐cells, were seen at age 3 months by biopsy. Cirrhosis and hepatocellular adenomata were demonstrated in the liver at 19 months of age. Cytoplasmic, probably locally synthesized, globules of alpha‐1‐antitrypsin (A‐l‐AT) were accumulated in the hepatocellular adenomata. A‐l‐AT and alpha‐fetoprotein (AFP) were present in the serum.