Neiman Pick disease type-C (NPC) is a rare lysosomal lipid storage disorder. NPC has a wide variety of clinical manifestations from rapidly fatal neonatal form to adult onset chronic neurodegenerative form. It is traditionally known as a childhood onset autosomal recessive, visceral, metabolic disorder. The neurological features of NPC are vertical supranuclear ophthalmoplegia, ataxia, dysarthria, mental-motor retardation and seizure. Nowadays more patients presenting with organic psychosis, early-onset cognitive decline and movement disorders are diagnosed with NPC. Although it does not seem possible to assess the true prevalence of the disease due to the heterogeneous clinical presentation and the large number of undiagnosed adult cases the insidace of NPC is estimated at about 1/100000.
Here it is presented a thirty-four year old man with dizziness and attention deficiency. A genetic test run by a neurologist and he is diagnosed with NPC after the years of the psyhchiatric treatment for adult attention-deficit/hyperactivity disorder and depression.
Diagnosing of a rare disease with a possible cure for such disorders, which often does not have a definitive cure, increases the hope both of the patients and clinicians.
There is no specific cure for NPC although research into disease modifying therapies such as miglustat has been ongoing. It is hoped that the treatment of the NPC will be provided by gene therapy, which will result in correction of the genetic defect in the future.
Audience Take Away Notes:
- This is a case based rare disease presentation that give the audience a different perspective to look to the neurometabolic disorders
- The audience will keep their mind that metabolic disorders can be seen also in adults
- This presentation is a clinical experience sharing