Abstract
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 only partially reversible. Investigations revealed elevated serum creatine kinase, lactic acidosis, hypertriglyceridaemia, and ragged red fibres in the muscle biopsy specimens. In both patients in vitro studies were performed on intact muscle mitochondria and muscle homogenate. Only in one was a mitochondrial defect found, located at the level of coenzyme Q. We conclude that these patients suffered from adult-onset mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS syndrome). Although the syndrome is often associated with long-standing neurological multisystem disease from childhood onwards, it should also be suspected in adults with strokelike signs of otherwise unexplained origin.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
DiMauro S, Bonilla E, Zeviani M, et al (1985) Mitochondrial myopathies. Ann Neurol 17:521–538
Driscoll PF, Larsen PD, Gruber AB (1987) MELAS syndrome involving a mother and two children. Arch Neurol 44:971–973
Fischer JC, Ruitenbeek W, Gabreëls FJM, et al (1986) A mitochondrial encephalomyopathy: the first case with an established defect at the level of co-enzyme Q. Eur J Pediatr 144:441–444
Hammans SR, Sweeney MG, Brockington M, Morgan-Hughes JA, Harding AE (1991) Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 337:1311–1313
Hasegawa H, Matsuoka T, Goto Y, Nonaka I (1991) Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol 29:601–605
Koga Y, Nonaka I, Kobayashi M, et al (1988) Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency. Ann Neurol 24:749–756
Lehman TC, Hale DE, Bhala A, Thorpe C (1990) An acylcoenzyme A dehydrogenase assay utilizing the ferricenium ion. Ann Biochem 186:280–284
Martin JJ, Van de Vyver FL, Scholte HR, et al (1988) Defect in succinate oxidation by isolated muscle mitochondria in a patient with symmetrical lesions in the basal ganglia. J Neurol Sci 84:189–200
Morgan-Hughes JA, Hayes DJ, Clark JB, et al (1982) Mitochondrial encephalomyopathies. Biochemical studies in two cases revealing defects in the respiratory chain. Brain 105:553–582
Ohama E, Ikuta F, Tanaka K (1987) Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol (Berl) 74:226–233
Pavlakis SG, Phillips PC, DiMauro S, et al (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16:481–488
Sakuta R, Nonaka I (1989) Vascular involvement in mitochondrial myopathy. Ann Neurol 25:594–601
Scholte HR, Busch HFM, Luyt-Houwen IEM, et al (1988) Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells. J Inherited Metab Dis 10[Suppl]:81–97
Stadhouders AM, Jap PHK, Keyser A (1989) Microvascular pathology in skeletal muscles from patients with MELAS syndrome. Ultramicroscopy 31:482
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kremer, H.P.H., Keyser, A., Wintzen, A.R. et al. Mitochondrial encephalomyopathy, lactic acidosis and stroke in adults: two cases. J Neurol 240, 219–222 (1993). https://doi.org/10.1007/BF00818708
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00818708