title: A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child.
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.
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Hsin-Ming
authors.initials: HM
authors.lastname: Liu
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Tsai
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Jia-Feng
authors.initials: JF
authors.lastname: Wu
authors.forename: Wen-Chin
authors.initials: WC
authors.lastname: Weng
authors.forename: Shinn-Forng
authors.initials: SF
authors.lastname: Peng
authors.forename: En-Ting
authors.initials: ET
authors.lastname: Wu
authors.forename: Pei-Hsin
authors.initials: PH
authors.lastname: Huang
authors.forename: Wang-Tso
authors.initials: WT
authors.lastname: Lee
authors.forename: I-Jun
authors.initials: IJ
authors.lastname: Tsai
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Ni-Chung
authors.initials: NC
authors.lastname: Lee
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics; D001706:Biopsy; D001928:Brain Diseases, Metabolic / Q000235:genetics; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D018450:Disease Progression; D005198:Fanconi Syndrome / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D017240:Mitochondrial Myopathies / Q000235:genetics; D010085:Oxidative Phosphorylation; D010195:Pancreatitis / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D013624:Taiwan
chemical_list: D004272:DNA, Mitochondrial