International Conference On Orphan Drugs and Rare Diseases

August 17-19, 2023

August 17 -19, 2023 | Online Event
Orphan Drugs 2023

Zeynep Unluturk

Speaker at Orphan Drugs and Rare Diseases 2023 - Zeynep Unluturk
University of Health Sciences Kocaeli Derince Training Hospital, Turkey
Title : Neiman-Pick disease Type C- early onset dementia


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


Dr. Zeynep Unluturk studied Medicine at the Dokuz Eylul University, Izmir, Turkey and graduated as MD in 2013. She then joined resident Neurology at the Pamukkale University, Denizli, Turkey. She started to work as a clinical neurologist in Giresun University Prof. Dr. A. Ilhan Ozdemir Training Hospital in 2020. After two year public obligator duty in there she started to work University of Health Sciences Kocaeli Derince Training Hospital as a clinical neurologist in 2022.