title: Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder.
abstract: A 40-year-old woman presented with profound muscle weakness resulting in failure to wean from a ventilator and persistent lactic acidosis after having recovered from a pneumonia complicated by adult respiratory distress syndrome, myocardial infarction, renal failure and shock. She had a 28 year history of chronic anemia and exercise intolerance. Anemia and thrombocytopenia persisted after admission. Nonobstructive hypertrophic cardiomyopathy was present. A stroke-like episode occurred. A mitochondrial myopathy with deficiencies in complexes IV and II was demonstrated, but no DNA defect has yet been found. This patient represents a distinct clinical presentation of a mitochondrial disorder characterized by late onset mitochondrial myopathy, chronic anemia, cardiomyopathy, and lactic acidosis.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: J L
authors.initials: JL
authors.lastname: Van Hove
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: F
authors.initials: F
authors.lastname: Ciacci
authors.forename: S
authors.initials: S
authors.lastname: Ballinger
authors.forename: J S
authors.initials: JS
authors.lastname: Shoffner
authors.forename: D C
authors.initials: DC
authors.lastname: Wallace
authors.forename: T
authors.initials: T
authors.lastname: Hanioka
authors.forename: K
authors.initials: K
authors.lastname: Folkers
authors.forename: E H
authors.initials: EH
authors.lastname: Bossen
authors.forename: P S
authors.initials: PS
authors.lastname: Kussin
mesh_terms: D000140:Acidosis, Lactic / Q000473:pathology*; D000328:Adult; D017668:Age of Onset; D000740:Anemia / Q000473:pathology*; D001853:Bone Marrow / Q000648:ultrastructure; D001921:Brain / Q000648:ultrastructure; D009202:Cardiomyopathies / Q000473:pathology*; D002908:Chronic Disease; D005260:Female; D006801:Humans; D008929:Mitochondria, Heart / Q000473:pathology; D008931:Mitochondria, Muscle / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000473:pathology*; D013577:Syndrome