Clinical manifestation of Niemann-Pick type C1 (NP-C1) disease and Niemann-Pick type C2 (NP-C2) disease share several commonalities; however, about 95% of NP-C patients show mutations of the NPC1 gene and only 5% harbor mutations of the NPC2 gene [3]. The gene discussed is NPC2; the disease is nasopharyngeal carcinoma.