Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder.
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.
Van Hove
J L
JL
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
Shanske
S
S
Ciacci
F
F
Ballinger
S
S
Shoffner
J S
JS
Wallace
D C
DC
Hanioka
T
T
Folkers
K
K
Bossen
E H
EH
Kussin
P S
PS
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