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?
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
Type I GSD
Type II GSD
Type III GSD
Type IV GSD
Miscellaneous (Bio-Chemistry)