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Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration.

Authors
 Jinu Han  ;  Do Wook Kim  ;  Chul-Ho Lee  ;  Sueng-Han Han 
Citation
 Journal of Neuro-Ophthalmology, Vol.36(2) : 182-186, 2016 
Journal Title
 Journal of Neuro-Ophthalmology 
ISSN
 1070-8022 
Issue Date
2016
MeSH
Adolescent ; Electroencephalography ; Electromyography ; Female ; Humans ; Magnetic Resonance Imaging ; Optic Atrophy/diagnosis ; Optic Atrophy/etiology* ; Pantothenate Kinase-Associated Neurodegeneration/complications* ; Pantothenate Kinase-Associated Neurodegeneration/diagnosis ; Visual Acuity*
Abstract
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegeneration with brain iron accumulation and characterized by extrapyramidal signs, vision loss, and intellectual decline. PKAN is caused by mutations in the PANK2 gene, which codes for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the coenzyme A biosynthetic pathway. Visual failure in this disorder is typically due to pigmentary retinopathy. Yet our patient, a 13-year-old girl with PKAN, developed bilateral optic atrophy and the appearance of the retina and electroretinography were normal. Optic atrophy is a rare finding in patients with PKAN. It is important for the clinician to consider PKAN in the differential diagnosis of patients presenting with signs of extrapyramidal dysfunction, cognitive decline, and vision loss because of optic atrophy.
Full Text
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=00041327-201606000-00016&LSLINK=80&D=ovft
DOI
10.1097/WNO.0000000000000335
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Do Wook(김도욱)
Han, Seung Han(한승한) ORCID logo https://orcid.org/0000-0001-8972-4790
Han, Jinu(한진우) ORCID logo https://orcid.org/0000-0002-8607-6625
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/147107
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