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 |
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 |