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What is A 2 month old infant presented with generalized muscle weakness with a "floppy infant" appearance. He also has other features like macroglossia, feeding difficulty, hepatomegaly and hypertrophic cardiomyopathy. What is the diagnosis? and explain in detail?
Ans. B. Type II GSD (Pompe's Disease)Identifying features* Affected infants present in the 1st few months of life with hypotonia, a generalized muscle weakness with a "floppy infant" appearance,* Neuropathic bulbar weakness, feeding difficulties, macroglossia,* Hepatomegaly* A hypertrophic cardiomyopathy followed by death from cardiorespiratory failure or respiratory infection usually by 1 yr of age