%0 Journal Article
%T Pompe's disease or type IIa glycogenosis
%A Jacob Jos¨¦ Luiz Balthazar
%A Leandro Rosiene Lisboa
%A Parro Jr Adelino
%J Arquivos Brasileiros de Cardiologia
%D 1999
%I Sociedade Brasileira de Cardiologia - SBC
%X 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.
%U http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X1999001100004