Primary Central Nervous System Vasculitis With Optic Nerve Involvement

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Title Primary Central Nervous System Vasculitis With Optic Nerve Involvement
Creator Christy E. Benson, MD; Alexander Knezevic, MD; Shannon C. Lynch, MD
Affiliation Department of Ophthalmology, University of Nebraska Medical Center, College of Medicine, Omaha, Nebraska
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.
Subject Adolescent; Electroencephalography; Electromyography; Female; Humans; Magnetic Resonance Imaging; Optic Atrophy; Pantothenate Kinase-Associated Neurodegeneration; Visual Acuity
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Date 2016-06
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, June 2016, Volume 36, Issue 2
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6d54gdn
Setname ehsl_novel_jno
ID 1276496
Reference URL https://collections.lib.utah.edu/ark:/87278/s6d54gdn
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