Infantile Presentation of Leber Hereditary Optic Neuropathy 'Plus' Disease

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Title Infantile Presentation of Leber Hereditary Optic Neuropathy 'Plus' Disease
Creator Helena Zakrzewski; Milad Modabber; Nagwa Wilson; Walla Al-Hertani; Daniela Toffoli
Affiliation Department of Experimental Surgery (HZ), McGill University, Montreal, Quebec, Canada; Department of Ophthalmology (MM, DT), McGill University, Montreal, Canada; Department of Pediatric Radiology (NW), Montreal Children's Hospital, Montreal, Canada; Department of Pediatrics and Medical Genetics (WA-H), Alberta Children's Hospital, Calgary, Canada; and Department of Ophthalmology (DT), Montreal Children's Hospital, Montreal, Canada
Abstract A 3-year-old boy was evaluated in the emergency department with a 2-month history of intractable vomiting. He also experienced an episode of ataxia 3 months before presentation. Examination revealed dehydration and global hypotonia. Metabolic workup showed elevated plasma alanine and elevated plasma alanine/lysine ratio, suggestive of mitochondrial dysfunction.
Subject Administration, Oral; Child, Preschool; Citrulline / therapeutic use; DNA, Mitochondrial / genetics; Humans; Magnetic Resonance Imaging; Male; Mitochondrial Diseases / diagnosis; Mitochondrial Diseases / drug therapy; Mitochondrial Diseases / genetics; Mutation; Optic Atrophy, Hereditary, Leber / diagnosis; Optic Atrophy, Hereditary, Leber / drug therapy; Optic Atrophy, Hereditary, Leber / genetics; Tomography, Optical Coherence; Ubiquinone / analogs & derivatives; Ubiquinone / therapeutic use; Visual Acuity / physiology
OCR Text Show
Date 2019-06
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, June 2019, Volume 39, 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/s6m38k8s
Setname ehsl_novel_jno
ID 1595869
Reference URL https://collections.lib.utah.edu/ark:/87278/s6m38k8s
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