Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report

Niemann-Pick disease type C is an inborn error of metabolism that affects l ipid degradation and storage. Hepatosplenomegaly and progressive neurologic al symptoms are the main clinical features. We present a case of an adult-o nset type of Niemann-Pick disease in a 33-year-old woman who initially pres ented with dysarthria. At first, laboratory findings suggested Wilson's dis ease. Laparoscopy showed macroscopic signs of liver cirrhosis and histology did not confirm Wilson's disease. After bone marrow biopsy showed characte ristic sea-blue histiocytes, Niemann-Pick disease was suspected and confirm ed by filipin stain of cultured fibroblasts. Though rarely encountered, lipid storage disease should be suspected especi ally in younger patients with organomegaly and progressive signs of neurolo gic disease.