Liver failure and the sea-blue histiocyte/adult Niemann-Pick disease. Case report and review of the literature.
Niemann-Pick disease is a metabolic disorder resulting in accumulation of sphingomyelin in visceral organs. The adult form (type B) is characterized by the sparing of brain involvement, allowing those affected to have a relatively benign course. Although the abnormal lipid accumulation in the liver is commonly recognized, hepatocellular compromise is extremely rare. We describe a patient with adult Niemann-Pick disease who over the course of over 35 years developed hepatic failure and portal hypertension, and we review the literature regarding hepatic involvement in this rare disease.
Putterman
C
C
Division of Medicine, Hadassah University Hospital, Ein-Kerem, Jerusalem, Israel.
Zelingher
J
J
Shouval
D
D
D000328:Adult; D005260:Female; D006644:Histiocytes / Q000473:pathology; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology* / Q000473:pathology; D017093:Liver Failure / Q000209:etiology* / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000473:pathology