Mitochondrial Myopathies with Necrotizing Encephalopathy of the Leigh Type
| Autor: | B. Wendtland, K. Wessel, H.R. Scholte, J.M. Schröder, W. Mortier, W. Roggendorf, Ch. Zimmermann, B. Kustermann-Kuhn, M. Poremba, J. Peiffer |
|---|---|
| Rok vydání: | 1988 |
| Předmět: |
Adult
Male Mitochondrial encephalomyopathy Pathology medicine.medical_specialty Ataxia Encephalopathy Pathology and Forensic Medicine Mitochondrial myopathy medicine Humans Necrotizing encephalopathy Leigh disease Cerebral Cortex Brain Diseases Metabolic business.industry Cell Biology medicine.disease Mitochondria Muscle Mitochondrial respiratory chain Child Preschool Lactic acidosis Occipital Lobe Leigh Disease medicine.symptom business |
| Zdroj: | Pathology - Research and Practice. 183:706-716 |
| ISSN: | 0344-0338 |
| Popis: | Two patients with mitochondrial encephalomyopathy (MEP) serve to emphasize the variability of this group of diseases. Cerebral insults, mitochondrial cardiopathy, relapsing ileus, cerebral angioma, ataxia, and myoclonic seizures characterized the first case of an adult man with similar diseases in his family, interpreted as transitional form between mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and myoclonus epilepsy associated with ragged red fibers (MERRF). The second patient, a floppy infant with cardiomyopathy and myoclonism, statomotoric and mental retardation showed combined defects in mitochondrial respiratory chain at NADH-CoQ reductase and cytochrome c oxidase and a deficiency of carnitine. In both patients neuropathologically criteria of Leigh's syndrome could be demonstrated in the cerebral cortex, in case 2 also clinically. The classificatory problems of the relationships between KSS, MELAS, MERRF, Leigh's as well as Alpers' syndromes are discussed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|