GLYCOGEN DISEASE OF THE HEART

PEDIATRICS ◽  
1952 ◽  
Vol 10 (2) ◽  
pp. 208-217
Author(s):  
ALFRED W. CHILDS ◽  
ROBERT F. CROSE ◽  
PATRICIA H. HENDERSON
Keyword(s):  
Skeletal Muscle ◽  
Differential Diagnosis ◽  
Smooth Muscle ◽  
Glycogen Storage Disease ◽  
Clinical Picture ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Secondary Infections ◽  
Pathologic Findings ◽  
Progressive Weakness

Two cases of siblings with glycogen storage disease of the heart are reported. The clinical picture was characterized by progressive weakness, areflexia, and susceptibility to secondary infections. There was also progressive hepatomegaly and cardiomegaly. The pathologic findings correlated well with the clinical and were characterized by marked glycogen storage in skeletal, heart, and smooth muscle, the liver, and nerve cells of the central and autonomic nervous systems. In addition, many other tissues showed some glycogen storage. Storage in the skeletal muscle was so marked as to result in degeneration of the muscle fibers. The familial aspect of this disease is again noted. Suggestions regarding differential diagnosis are made.

GLYCOGEN DISEASE OF SKELETAL MUSCLE

PEDIATRICS ◽  
1955 ◽  
Vol 15 (6) ◽  
pp. 715-732 ◽  
Author(s):  
H. Zellweger ◽  
A. Dark ◽  
G. A. Abu Haidar
Keyword(s):  
Skeletal Muscle ◽  
Glycogen Storage Disease ◽  
Muscle Biopsy ◽  
Glycogen Content ◽  
Storage Disease ◽  
Muscular Atrophy ◽  
Clinical Signs ◽  
Glycogen Storage ◽  
Neurological Involvement ◽  
Skeletal Muscle Biopsy

Two cases of glycogen storage disease primarily affecting the skeletal muscle are presented. The patients were not related to each other, but both are from consanguineous families. In both cases a tentative clinical diagnosis was confirmed by skeletal muscle biopsy. Histologic studies of the skeletal muscle reveal a picture similar to that found in glycogen disease of the myocardium. Individual fibers show severe vacuolization with massive deposits of glycogen within the vacuoles. Large quantities of a basophilic material (presumably identical with that found in myocardial glycogenosis) are also found within the vacuoles. This material is characterized as an acid mucopolysaccharide; its histochemical and tinctorial properties are described. A method is given for avoiding the apparent discrepancy which may occur between the histochemical and biochemical estimations of glycogen content of skeletal muscle. The destruction of skeletal muscle is so severe and so extensive that the clinical signs of neurological involvement present in both our cases can be quite adequately and entirely accounted for by the local muscular damage. Previously reported cases of glycogen disease of skeletal muscle are reviewed. It was found that Werdnig-Hoffmann's progressive muscular atrophy could be distinguished from glycogen disease of skeletal muscle by the early appearance of pseudo-bulbar symptoms (especially dysphagia) in the latter disease. The relationship between the myocardial and the skeletal muscle forms of glycogen disease is discussed. Although clinically the 2 conditions may appear as 2 distinct entities, quantitative laboratory methods show considerable overlap in the 2 conditions. Skeletal muscle biopsy is indicated in every instance of progressive muscular weakness in order not to miss a possible case of glycogen storage disease primarily affecting skeletal muscle. The high glycogen content estimated biochemically and the histological picture described above are pathognomonic for this disease.

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III

Neurology ◽  
2015 ◽  
Vol 84 (17) ◽  
pp. 1767-1771 ◽  
Author(s):  
N. Preisler ◽  
P. Laforet ◽  
K. L. Madsen ◽  
K. P. Prahm ◽  
G. Hedermann ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Muscle Metabolism ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Skeletal Muscle Metabolism ◽  
Type Iii
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