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.