Niemann–Pick type C disease in a 68-year-old patient

[...]she was able to eat and to communicate in a simplified fashion. Ongoing research suggests that substrate reduction treatment may be able to halt or slow progression of the disease, particularly in milder cases such as the one presented. 4 At present, clinical trials with an inhibitor of glycosphingolipid biosynthesis (miglustat) are under way in patients with NPC. 5 To enable such treatment, however, the organic cause also has to be identified early in patients with psychiatric presentations. [...]there is need for a thorough physical and biochemical assessment in such patients to avoid missing these sorts of diagnosis.