All are features of Pompe’s disease except
Correct Answer: Hyperglycemia
Description: Type II(Pompe) disease results from lysosomal storage of glycogen in skeletal muscles,cardiac muscles, and central nervous system.
There is progressive cardiomyopathy.ECG shows left axis deviation,short PR interval & large QRS.Heart failure with dyspnoea and cyanosis may occur.Skeletal muscles show hypotonia and marked weakness.The tongue is large & protruding.It is also characterised by hepatomegaly and hypoglycemia.
Category:
Pediatrics
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