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A 10 day old presents with shaking of bilateral upper extremities and jitteriness. The patient was a term infant born NSVD with no complications. He is afebrile, HR 140, RR 50, and currently not having any abnormal movements. He has been feeding and urinating normally. His blood glucose is 120. Labs, EKG, head CT, and a CXR are performed – the CXR is shown here.
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December 8, 2021 at 1:05 pm
B) Hypoglycemia
The CXR shows an absent thymus and some cardiomegaly. This raises suspicion for DiGeorge syndrome aka 22q11.2 deletion, characterized by conotruncal cardiac defects, thymic hypoplasia, and parathyroid hypoplasia resulting in hypocalcemia. Common cardiac defects are: interrupted aortic arch, truncus arteriosus, Tetralogy of Fallot, ASD or VSD, and vascular rings. Hypocalcemia presents in the neonatal period in 60%, and can present as jitteriness, seizures, or tetany. A prominent thymus, often seen as a “sail sign” on CXR, is the norm in infants, so absence of a thymic shadow raises concerns for DiGeorge syndrome.