Coarse facies, hepatosplenomegaly and tall QRS on ECG are characteristic feature of-
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.
Glycogen storage disease type II
Hurler's disease
Hunters disease
Hemochromatosis