MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC-ACIDOSIS AND STROKE IN ADULTS- 2 CASES

Two previously healthy women are described who in their late thirties suffered transient strokelike episodes, consisting of initial headache and vomiting, with various subsequent neurological signs that were on ly partially reversible. Investigations revealed elevated serum creati ne kinase, lactic acidosis, hypertriglyceridaemia, and ragged red fibr es in the muscle biopsy specimens. In both patients in vitro studies w ere performed on intact muscle mitochondria and muscle homogenate. Onl y in one was a mitochondrial defect found, located at the level of coe nzyme Q. We conclude that these patients suffered from adult-onset mit ochondrial encephalopathy, lactic acidosis and strokelike episodes (ME LAS syndrome). Although the syndrome is often associated with long-sta nding neurological multisystem disease from childhood onwards, it shou ld also be suspected in adults with strokelike signs of otherwise unex plained origin.