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Metabolic Diseases

5 out of 5

Coarse facies, hepatosplenomegaly and tall QRS on ECG are characteristic feature of (AIIMS Nov 2014)

A Glycogen storage disease type II

B Hurler's disease

C Hunters disease

D Hemochromatosis

Ans. B

Glycogen storage disease type ll

Hepatosplenomegaly, characteristics E.C.G. findings and coarse facies are seen in Glycogen storage Type II or pompe's ds.

Pompe's Disease

Infantile Form Juvenile form or Adult form

(Most severe) Late childhood form

o Hepatosplenomegaly

o Cardiomegaly o Skeletal muscle o Slowly progressive

o Hypotonia manifestations without myopathy without

o Floppy infant cardiac involvement. cardiac involvement.

o Macroglossia o Slowly progressive course

o Congestive heart failure

o Hypertrophic cardionuropathy

o ECG Findings

High voltage QRS

o Short PR interval

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 characteristir ECG pattern of Pompe’s disease clinches the diagnosis in favour of Pompe's disease.