Pompe's disease or type IIa glycogenosis
| Autor: | José Luiz Balthazar Jacob, Rosiene Lisboa Leandro, Adelino Parro Jr |
|---|---|
| Jazyk: | English<br />Portuguese |
| Rok vydání: | 1999 |
| Předmět: | |
| Zdroj: | Arquivos Brasileiros de Cardiologia, Vol 73, Iss 5, Pp 438-440 (1999) |
| Druh dokumentu: | article |
| ISSN: | 0066-782X 1678-4170 |
| DOI: | 10.1590/S0066-782X1999001100004 |
| Popis: | This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final diagnosis, because in the histopathologic study marked increased glycogen accumulation was evident. Death occurred two months after symptom onset. |
| Databáze: | Directory of Open Access Journals |
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