Diagnosis at a glance

一位 2 個月大 baby 因 seizure 就醫，檢查發現 hypocalcemia。
Chest x-ray 如下，請問診斷是？


Hint: 請對照看以下另一位正常小 baby 的 CXR：



答案應該知道了吧？

對，就是 DiGeorge Syndrome。 請仔細看病人的 CXR：mediastinum 是窄的，因為少了 thymus！The DiGeorge syndrome is an example of a selective T-cell deficiency caused by the failure of development of the third and fourth pharyngeal pouches.
These pouches give rise to the following structures:

1. thymus
2. parathyroid
3. saortic arch
4. portions of the lips and ears

Consequently, DiGeorge syndrome may present with as immune deficiency state - usually T cells, but sometimes B cells, and also aberrant calcium metabolism, congential heart disease and abnormal facies.


[Reference]
Radiology Cases in Pediatric Emergency Medicine
Loren G. Yamamoto, MD, MPH
Kapiolani Medical Center For Women And Children
University of Hawaii John A. Burns School of Medicine