Doença de Pompe ou glicogenose tipo IIa / Pompe's disease or type IIa glycogenosis
Jacob, José Luiz Balthazar; Leandro, Rosiene Lisboa; Parro Junior, Adelino.
Arq. bras. cardiol
; 73(5): 435-40, Nov. 1999. ilus
Artículo
en Inglés, Portugués
| LILACS | ID: lil-261165
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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