A 3m infant has presented with recurrent infections. He has abnormal facies and CXR shows
absent thymic shadow. What is the most likely dx?
a. Downs syndrome
b. Fragile X syndrome
c. DiGeorge syndrome
d. Marfans syndrome
Q. 1. What is the key?
Q. 2. What are the points in favour?
Ans. 1. The key is C. DiGeorge syndrome.
Ans. 2. Points in favour: i) Early age of onset ii) abnormal facies iii) absent thymic shadow on Chest X-ray
iii) history of recurrent infection [Infections are common in children due to problems with the immune
system’s T-cell-mediated response that in some patients is due to an absent or hypoplastic thymus]. [in
newborne can be recognized by convulsions from hypocalcaemia due to malfunctioning parathyroid
glands and low level of parathyroid hormones].