Gokalp Arif Utkugun, Ozge Uygun, Nihan Hande Akcakaya and Zuhal Yapıcı
Yeditepe University, Istanbul, Turkey Istanbul University, Istanbul, Turkey ASDETAE, Istanbul University, Istanbul, Turkey
Posters & Accepted Abstracts: J Neurol Neurosci
Neurodegeneration with brain iron accumulation (NBIA) consists of various genetically and clinically distinct forms of progressive motor disorders characterized by iron accumulation in the specific regions of the central nervous system. The most common subtype of this spectrum is pantothenate kinase-associated neurodegeneration (PKAN). The typical magnetic resonance imaging pattern called eyeof- the-tiger is seen in most of the patients with PKAN and basically it has two distinct forms, early onset rapidly progressive (classical) and late onset slowly progressive (atypical). The common presentation of patients with classical PKAN is dystonia with dysarthria and rigidity in the first decade of life. Our PKAN family members presented with night blindness as the initial symptom without developing dystonia for a while. Night blindness due to retinal involvement can be seen in the course of the disease but it is rare as the initial symptom in classical PKAN so it should be kept in mind. Conclusion: This case study shows that classical PKAN patients can present with night blindness without developing other symptoms. We wanted to emphasize this kind of presentation
Gokalp Arif Utkugün has graduated from Cağaloğlu Anadolu High School in 2013. Since 2013 he has been studying medicine in Yeditepe University Faculty of Medicine. He speaks English and German. He is interested in General Surgery, Plastic and Reconstructive Surgery, Pharmacology, Neurology, Neuroscience and History of Medicine. He passed USMLE Step1 in 2017. In Jul’ 2016 he did Observership at Plastic and Reconstructive Surgery in Vilnius, Lithuania. In Apr’2018, he attended New Era of Medicine congress in Istanbul.
E-mail: [email protected]