Severe cardiopathy in branching enzyme deficiency
| Autor: | Salvatore DiMauro, Dawna Armstrong, Claire Langston, Lloyd Y. Tani, Henry Travers, Naoma Crisp-Lindgren, Roger E. Riepe, J. Timothy Bricker, Serenella Servidei |
|---|---|
| Rok vydání: | 1987 |
| Předmět: |
Cardiomyopathy
Dilated Postmortem studies Pathology medicine.medical_specialty Biopsy Cardiomyopathy Exercise intolerance Cytoplasmic Granules chemistry.chemical_compound Glycogen Storage Disease Type IV medicine Humans Glycogen storage disease type IV Child Skin Brain Chemistry Muscle biopsy Glycogen medicine.diagnostic_test business.industry Muscles Myocardium medicine.disease Spinal cord Glycogen Storage Disease Pleural Effusion medicine.anatomical_structure chemistry Liver Pediatrics Perinatology and Child Health Female medicine.symptom business |
| Zdroj: | The Journal of pediatrics. 111(1) |
| ISSN: | 0022-3476 |
| Popis: | A 7 1/2-year-old girl had exercise intolerance and exertional dyspnea. Four months later, congestive heart failure developed, with recurrent chylous pleural effusions, and she died at age 8 1/2 years. Endomyocardial biopsy tissue showed abundant PAS-positive, diastase-resistant cytoplasmic deposits. Similar inclusions were seen in muscle, skin, and liver specimens. Postmortem studies showed that the abnormal polysaccharide was especially abundant in heart and muscle, but was also present in all other tissues, including the central nervous system. Glycogen isolated from heart, muscle, and spinal cord showed a shift of the iodine spectrum toward higher than normal wavelengths. Branching enzyme activity was lacking in the muscle biopsy specimen and in all postmortem tissues; glycogenolytic enzymes had normal activities. These studies show that cardiomyopathy can be the first symptom of generalized branching enzyme deficiency and that the degree of accumulation of the abnormal polysaccharide may vary in different tissues. |
| Databáze: | OpenAIRE |
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