Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns-Sayre syndrome.
A case of Kearns-Sayre syndrome (KSS) diagnosed 18 years prior to death due to stroke and heart failure with postnatal onset was followed over 15 years and confirmed by postmortem examination. Within the brain, an old cystic infarction of the left hemisphere was found. Other features included white matter gliosis and cerebellar atrophy. Equal or similar features were observed in other conditions thought to be due to failure of mitochondrial metabolism, therefore, a common evolution of neuropathological changes must be discussed.
Müller
W
W
Department of Neurology, Cologne Municipal Hospital, Marburg, Germany.
Mennel
H D
HD
Bewermeyer
K
K
Bewermeyer
H
H
D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D002544:Cerebral Infarction / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D004292:Dominance, Cerebral / Q000502:physiology; D004734:Energy Metabolism / Q000502:physiology*; D005260:Female; D005911:Gliosis / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000473:pathology* / Q000503:physiopathology; D008928:Mitochondria / Q000473:pathology / Q000502:physiology; D017237:Mitochondrial Encephalomyopathies / Q000473:pathology* / Q000503:physiopathology; D009460:Neurologic Examination; D014057:Tomography, X-Ray Computed