

4
t h
E u r o S c i C o n C o n f e r e n c e o n
Neurology & Neurological
Disorders
Neurology 2018
J u l y 1 2 - 1 3 , 2 0 1 8
P a r i s , F r a n c e
Page 65
Journal of Neurology and Neuroscience
ISSN: 2171-6625
N
eurodegeneration 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 eye-
of-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
A PKAN family presenting with night blindness as the initial symptom
Gokalp Arif Utkugun¹, Ozge Uygun², Nihan Hande Akcakaya³
and Zuhal Yapıcı²
¹Yeditepe University, Istanbul, Turkey
²Istanbul University, Istanbul, Turkey
³ASDETAE, Istanbul University, Istanbul, Turkey
Biography
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.
gokalputkugun@gmail.comGokalp Arif Utkugun et al., J Neurol Neurosci 2018, Volume: 9
DOI: 10.21767/2171-6625-C1-009