https://scholars.lib.ntu.edu.tw/handle/123456789/470832
Title: | A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child | Authors: | Liu H.-M. Tsai L.-P. YIN-HSIU CHIEN JIA-FENG WU WEN-CHIN WENG STEVEN SHINN-FORNG PENG EN-TING WU PEI-HSIN HUANG WANG-TSO LEE I-JUNG TSAI WUH-LIANG HWU NI-CHUNG LEE |
Issue Date: | 2012 | Journal Volume: | 53 | Journal Issue: | 4 | Start page/Pages: | 264-268 | Source: | Pediatrics and Neonatology | Abstract: | Mitochondrial DNA (mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. Here, we report the case of a 10-year-old boy who presented with progressive deterioration of his clinical status (which included hypoglycemia, short stature, sensorineural hearing loss, retinitis pigmentosa, and chronic gastrointestinal dysmotility) that progressed to acute deterioration with pancreatitis, Fanconi syndrome, lactic acidosis, and acute encephalopathy. Following treatment, the patient was stabilized and his neurological condition improved. Through a combination of histological examinations and biochemical and molecular analyses, mitochondrial disease was confirmed. A novel 3670-base pair deletion (deletion of mtDNA nt 7,628-11,297) was identified in the muscle tissue. A direct repeat of CTACT at the breakpoints was also detected. Copyright ? 2012, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84866103563&doi=10.1016%2fj.pedneo.2011.08.013&partnerID=40&md5=b47970924d3a35505849c054ef150ac3 https://scholars.lib.ntu.edu.tw/handle/123456789/470832 |
ISSN: | 1875-9572 | DOI: | 10.1016/j.pedneo.2011.08.013 | SDG/Keyword: | arginine; carnitine; mannitol; mitochondrial DNA; ubiquinone; article; brain disease; case report; child; clinical feature; disease course; echocardiography; Fanconi renotubular syndrome; gene deletion; health status; human; human tissue; laboratory test; lactic acidosis; male; mitochondrial DNA depletion syndrome; molecular diagnosis; muscle biopsy; nitrogen nuclear magnetic resonance; pancreatitis; school child; Acidosis, Lactic; Biopsy; Brain Diseases, Metabolic; Child; Disease Progression; DNA, Mitochondrial; Fanconi Syndrome; Gene Deletion; Humans; Magnetic Resonance Imaging; Male; Mitochondrial Diseases; Mitochondrial Myopathies; Oxidative Phosphorylation; Pancreatitis; Sequence Homology, Nucleic Acid; Taiwan |
Appears in Collections: | 病理學科所 |
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