Brain hypometabolic changes in 14 adolescent–adult patients with Niemann–Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography
Niemann Pick disease type C (NPC) is a rare progressive neurovisceral lysosomal disorder caused by autosomal recessive mutations in the NPC1 or NPC2 genes. 18F-fluorodeoxyglucose (FDG) PET is a positron-emitting glucose analog for non-invasive imaging of brain metabolism. This is a retrospective study of all baseline brain FDG PET performed for NPC patients. We found bilateral symmetric hypometabolism of the frontal lobes, thalami, and parietal lobes to be typical of adolescent–adult NPC.
