A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
Journal
Pediatrics and Neonatology
Journal Volume
53
Journal Issue
4
Pages
264-268
Date Issued
2012
Author(s)
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.
SDGs
Other Subjects
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
Type
journal article