All Title Author
Keywords Abstract

Pompe's disease or type IIa glycogenosis

Full-Text   Cite this paper   Add to My Lib


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.


comments powered by Disqus

Contact Us


微信:OALib Journal