Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder

1994/06/01 by Johan L. K. Van Hove, Sara Shanske, Federica Ciacci +9

paper · doi:10.1002/ajmg.1320510207

Abstract

Abstract A 40‐year‐old woman presented with pro found 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. © 1994 Wiley‐Liss, Inc.

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