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Pompe's disease or type IIa glycogenosis
J L Jacob1, R L Leandro, A Parro Junior
1Instituto de Moléstias Cardiovasculares, São José do Rio Preto, SP, Brazil.
Arquivos Brasileiros De Cardiologia
|July 11, 2000
Abstract:
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.