2007年7月3日 星期二

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

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