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 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.
Jacob
J L
JL
Instituto de Moléstias Cardiovasculares, São José do Rio Preto, SP, Brazil.
Leandro
R L
RL
Parro Junior
A
A
D003241:Consanguinity; D004452:Echocardiography; D004562:Electrocardiography; D017809:Fatal Outcome; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007223:Infant