Abstract
Leigh's Encephalopathy (SNE) is still an incompletely defined CNS disorder affecting children. Recent studies of muscle in two male children, ages 7 months and 4 years (at the onset) revealed previously undescribed histological and histo-chemical changes. There were two distinctly separate populations of muscle fibers, large polygonal type I fibers and and small polygonal type I and II. Each type I large fiber was surrounded by several small type I and II fibers in an orderly pattern throughout all of the muscle fascicles. There were rare large type II fibers. The histological changes were identical in both infants.
The youngest infant died at nine months as did a sibling two years previously following a similar course of degeneration. Muscle was obtained at autopsy from the left pectoralis major. The second child developed progressive neurological deterioration at four years and is still alive. Muscle was obtained by biopsy of the left deltoid.
During life both patients and parents showed urinary inhibition of TPP while brain tissue analysis (patient no. 1) for thiamine and thiamine triphosphate (J. Murphy, Pittsburgh) was reduced as reported in SNE. Studies also showed progressive EEG deterioration, mild biochemical derangements in alaninepyruvate-lactate levels and normal CSF protein.
These studies of muscle suggest another component to SNE and a possible method of diagnostic confirmation.
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Simmons, J., Allen, R. MUSCLE PATHOLOGY IN LEIGH'S DISEASE. Pediatr Res 8, 396 (1974). https://doi.org/10.1203/00006450-197404000-00335
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DOI: https://doi.org/10.1203/00006450-197404000-00335
