Contents | 17 of 32

Posterior Reversible Encephalopathy Syndrome in a Leber Hereditary Optic Neuropathy Patient With Mitochondrial DNA 11778G>A Point Mutation

Update Item Information
Title Journal of Neuro-Ophthalmology, September 2013, Volume 33, Issue 3
Date 2013-09
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
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/s6gr03wb
Setname ehsl_novel_jno
ID 227503
Reference URL https://collections.lib.utah.edu/ark:/87278/s6gr03wb

Page Metadata

Title Posterior Reversible Encephalopathy Syndrome in a Leber Hereditary Optic Neuropathy Patient With Mitochondrial DNA 11778G>A Point Mutation
Creator Da, Yuwei; Zhang, Xuxiang; Li, Fang; Yang, Xiaoping; Zhang, Xinqing; Jia, Jianping
Affiliation Departments of Neurology (YD, FL, XZ, JJ); Ophthalmology (XZ); and Radiology (XY), Xuan Wu Hospital, Capital Medical University, Beijing, China
Abstract Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that primarily affects the optic nerve. We report a case of reduced visual acuity secondary to optic atrophy in a 13-year-old boy. Transient seizures developed subsequently. Serial magnetic resonance imaging of the brain showed posterior reversible encephalopathy syndrome. Ragged red fibers were not detected on skeletal muscle biopsy. A 11778G>A mitochondrial DNA point mutation was identified in the lymphocytes isolated from peripheral blood. His younger brother was a carrier with the same mutation. The presentation of this case is unusual documenting LHON in association with PRES.
Subject Adolescent; Brain; DNA, Mitochondrial; Humans; Magnetic Resonance Imaging; Male; Optic Atrophy, Hereditary, Leber; Point Mutation; Posterior Leukoencephalopathy Syndrome
OCR Text Show
Format application/pdf
Publication Type Journal Article
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
Setname ehsl_novel_jno
ID 227487
Reference URL https://collections.lib.utah.edu/ark:/87278/s6gr03wb/227487
Back to Search Results