Question

What could be the cause of tall QRS complexes with coarse facial features and hepatosplenomegaly?

• A. Glycogen Storage Disease Type II
• B. Marfan's Syndrome
• C. Romano-Ward Syndrome
• D. Pompe's Disease

Hint:

Coarse facies, hepatosplenomegaly, and tall QRS in an infant point to a lysosomal glycogen storage disorder of the heart (Pompe's disease).

Answer 1

The Correct Option is D

Step 1: Break down the clinical picture.
The child has tall QRS complexes on ECG, a sign of a thick, glycogen-loaded heart muscle, along with coarse facial features and an enlarged liver and spleen. This combination points toward a storage disorder that fills organs, including the heart, with abnormal material.

Step 2: Recall Pompe's disease.
Pompe's disease is caused by a deficiency of acid alpha-glucosidase (acid maltase), the lysosomal enzyme that breaks down glycogen. Glycogen then piles up inside lysosomes of the heart, skeletal muscle, and liver. Infants develop severe cardiomegaly with tall QRS voltages, hypotonia (floppy baby), macroglossia and coarse facies, and hepatomegaly. Because of this systemic buildup, Pompe's disease is classified as Glycogen Storage Disease Type II; the two names describe the same condition, which is why option (A) and option (D) point to the same disease here.

Step 3: Rule out Marfan syndrome.
Marfan syndrome is a connective tissue disorder from a fibrillin-1 defect. It causes tall stature, long limbs, lens dislocation, and aortic root dilation, not coarse features, hepatosplenomegaly, or tall QRS from glycogen buildup.

Step 4: Rule out Romano-Ward syndrome.
Romano-Ward syndrome is an inherited long QT syndrome without deafness. It causes a prolonged QT interval and risk of torsades de pointes, not tall QRS voltage, coarse facies, or organomegaly.

Step 5: Final answer.
The clinical triad of tall QRS, coarse features, and hepatosplenomegaly fits Pompe's disease, matching the answer key's option (D).
\[ \boxed{\text{Pompe's Disease}} \]