An infant died at 8 months of age with a history of developmental regression, hypotonia, severe weakness, cardiomegaly, congestive heart failure, and hepatomegaly. A diagnosis of Pompe's disease (glycogenosis type II) was established by muscle biopsy at 5 months of age. Vacuolar myopathy involved muscle fibers of histochemical type I more than type II. Many vacuoles were filled with glycogen. In addition, increased amounts of neutral lipid were demonstrated by oil red O stain, electron microscopy, and quantitative analysis. Acid α-1,4-glucosidase activity was demonstrated to be deficient. Biochemical studies failed to determine the cause of the lipid accumulation, but demonstrated a low total concentration of carnitine in the muscle (6.37 nmole/mg of protein), associated with elevated activities of carnitine palmityltransferase and palmityl-coenzyme A dehydrogenase. Palmityl-coenzyme A synthetase activity was in the normal range.
|Original language||English (US)|
|Number of pages||4|
|Journal||Archives of Neurology|
|State||Published - Mar 1982|
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology