[Skip to Navigation]
March 1982

Lipid Storage Myopathy in Infantile Pompe's Disease

Author Affiliations

From the Departments of Pathology (Drs Sarnat and Roth), Neurology (Dr Sarnat), and Pediatrics (Drs Sarnat and Dungan), University of Arkansas for Medical Sciences, Little Rock; and the Departments of Pediatrics, Neurology, and Neurosurgery (Dr Carroll) and Biological Chemistry (Dr Brown), Washington University School of Medicine, St Louis. Dr Sarnat is now with the Departments of Pediatrics (Neurology) and Pathology, University of Calgary Faculty of Medicine, Calgary, Alberta, Canada.

Arch Neurol. 1982;39(3):180-183. doi:10.1001/archneur.1982.00510150050012

• 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.

Add or change institution