A description is given of a case in a 16 yr old boy who has a progressive dementia and seizures. On investigation, he was found to have a mitochondrial myopathy and elevated lactate and pyruvate levels in the blood and cerebrospinal fluid. His sister died at 18 yr of age of a similar condition. The additional finding of a low oxygen consumption suggests a defect of oxidative pathways as the underlying of the of disease process.
|Original language||English (US)|
|Number of pages||6|
|Journal||Archives of neurology|
|State||Published - Mar 1977|
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology