title: Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.
abstract: A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory chain enzymes except complex II. Muscle histochemistry revealed diffuse cytochrome c oxidase deficiency. Southern blot analysis of mitochondrial DNA from muscle, liver, and blood showed a heteroplasmic single mitochindrial DNA deletion of 2.4 kb, which removed the genes for cytochrome c oxidase I and II and the transfer ribonucleic acid genes for serine and aspartic acid. Single large-scale deletions in mitochondrial DNA have been associated with Pearson's syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. This patient's presentation is unusual and suggests an overlap between Pearson's syndrome and Kearns-Sayre syndrome.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: Cigdem Inan
authors.initials: CI
authors.lastname: Akman
authors.forename: Carolyn M
authors.initials: CM
authors.lastname: Sue
authors.forename: Sara
authors.initials: S
authors.lastname: Shanske
authors.forename: Kurenai
authors.initials: K
authors.lastname: Tanji
authors.forename: Eduardo
authors.initials: E
authors.lastname: Bonilla
authors.forename: Joceline
authors.initials: J
authors.lastname: Ojaimi
authors.forename: Sindu
authors.initials: S
authors.lastname: Krishna
authors.forename: Romaine
authors.initials: R
authors.lastname: Schubert
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics / Q000378:metabolism; D000749:Anemia, Megaloblastic / Q000150:complications / Q000235:genetics*; D015139:Blotting, Southern; D001928:Brain Diseases, Metabolic / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D003128:Coma / Q000235:genetics / Q000378:metabolism; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics; D008099:Liver / Q000378:metabolism; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism; D012008:Recurrence; D018805:Sepsis; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial