An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis.
Report of a 20 months old child showing a mild form of glycogenosis type II (POMPE, 1932) with preferential involvement of skeletal muscle. First muscle biopsy reveals, on light microscopic examination, only a mild vacuolar myopathy. By PAS-staining pathologic glycogen storage can be shown. Glycogenosis type II is proved by ultrastructural and biochemical studies of muscle tissue obtained by a second biopsy. Consequently in all cases of a floppy infant syndrome with myopathic features it is necessary to obtain tissue for biochemical and ultrastructural analysis and to carry out these techniques if by light microscopic examination a vacuolar myopathy with increase of glycogen is found.
D000251:Adenosine Triphosphatases / Q000032:analysis; D001706:Biopsy; D003937:Diagnosis, Differential; D005959:Glucosidases / Q000032:analysis; D006008:Glycogen Storage Disease / Q000473:pathology*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009247:NADH, NADPH Oxidoreductases / Q000032:analysis; D009468:Neuromuscular Diseases / Q000175:diagnosis; D006005:Phosphorylases / Q000032:analysis
D009247:NADH, NADPH Oxidoreductases; D006005:Phosphorylases; D005959:Glucosidases; D000251:Adenosine Triphosphatases