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What is Coarse facies, hepatosplenomegaly and tall QRS on ECG are characteristic feature of- and explain in detail?
Ans. is 'b' i.e., Glycogen storage disease type II o Hepatosplenomegaly, characteristics E.C.G. findings and coarse facies are seen in Glycogen storage Type II or pompe's ds. o Death of infant before 2 yrs of age. o Pompe's disease is caused due to absent or reduced level of acid alpha glucosidase (acid maltase) activity. o Hurler's and Hunter syndrome are mucopolysaccharidosis that presents with hepatomegaly and coarse facies, but characteristic ECG pattern of Pompe's disease clinches the diagnosis in our of Pompe's disease.