Niemann-Pick disease associated with liver disorders.
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-1-AT) were accumulated in the hepatocellular adenomata. A-1-AT and alpha-fetoprotein (AFP) were present in the serum.
D005234:Fatty Liver / Q000150:complications / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D013109:Sphingomyelins / Q000378:metabolism
D013109:Sphingomyelins