Pompe's disease or type IIa glycogenosis
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 vent...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Cardiologia (SBC)
1999-11-01
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| Series: | Arquivos Brasileiros de Cardiologia |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004 |
| Summary: | 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. |
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| ISSN: | 0066-782X 1678-4170 |