Question:
A patient presents with dilated cardiomyopathy on X-ray and hypoglycemia, floppy baby, hypotonia, hepatomegaly. What is the most likely diagnosis?
A patient presents with dilated cardiomyopathy on X-ray and hypoglycemia, floppy baby, hypotonia, hepatomegaly. What is the most likely diagnosis?
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Pompe's disease presents with early-onset cardiomyopathy, hypotonia, and hepatomegaly, which are due to glycogen accumulation in tissues.
Updated On: Mar 24, 2025
- Pompe's disease
- Von Gierke's disease
- Ebstein anomaly
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The Correct Option is A
Solution and Explanation
Pompe's disease (Glycogen Storage Disease type II) is caused by a deficiency in the enzyme acid alpha-glucosidase, leading to glycogen accumulation in muscles and other tissues. This results in symptoms such as hypotonia, cardiomegaly, hepatomegaly, and hypoglycemia.
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