A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient.

ABSTRACT:

Unlabelled

The case of a 66 year-old female - the oldest known living patient with Niemann-Pick disease type C (NP-C) who remains free of any neurological or psychiatric manifestations 18 years after presentation - is presented. An incidental finding of massive splenomegaly was detected during a routine pelvic ultrasound. The pathology report after splenectomy showed the presence of lipid-laden macrophages. Fibroblasts cultured in LDL-enriched medium revealed abnormal filipin staining consistent with cholesterol-filled vesicles and the rate of cholesterol esterification in response to stimulation of LDL-cholesterol uptake was significantly depressed at 6% of that seen in cells from normal controls, but at a level similar to that observed in an NP-C positive control. Molecular genet

SUBMITTER: Greenberg CR 

PROVIDER: S-EPMC4750631 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature