Niemann‐Pick disease type C (NPC) is an uncommon autosomal recessive lysosomal storage disorder with accumulation of cholesterol and other lipid species caused by mutations of either the NPC1 (95% cases)1 or NPC2 genes,2 with considerable heterogeneity regarding biochemical, molecular and clinical features. The gene discussed is NPC1; the disease is nasopharyngeal carcinoma.