
This brief pre-test assesses your current knowledge of Niemann–Pick disease type C before you begin the case simulations. Comparing your responses before and after the activity helps demonstrate learning and identify areas where further education may be beneficial.

A. Brain MRI should be used as the primary screening test, followed by EEG and muscle biopsy if abnormal.

B. Plasma biomarker testing (eg oxysterols, PPCS/lyso-SM ratio, and bile acid derivatives) should be used as first-line screening, with confirmatory NPC1/NPC2 genetic testing.

C. Liver biopsy should be performed before any biochemical or molecular investigations are considered.

D. NPC can only be confirmed by neuroimaging demonstrating cerebellar atrophy and corpus callosum thinning.