Absent Pulmonary Valve Syndrome Associated with DiGeorge Syndrome: Report of One Case

肺動脈瓣缺失症候群合併DiGeorge症候群

梁啓迪(Chi-Di Liang) ； 張仁平(Jen-Ping Chang) ； 張維基(Wei-Chi Chang)

《Acta Paediatrica Sinica》 37卷5期 (1996/10) Pp. 361-363

https://doi.org/10.7097/APS.199610.0361

摘要

一名一個月大的女嬰，因發紺、呼吸窘迫及心雜音，而轉來本院做進一步的檢查，經心臓超音波診斷爲肺動脈瓣缺失症候群。病嬰於兩月大時，因低血鈣性抽搐及肺炎再度入院，雖給予廣效性抗生素治療，但最後仍死於敗血症及心肺衰竭。病理解剖的結果顯示除肺動脈瓣缺失症群外，另合併胸腺發育不全(Digeorge syndrome)。
臨床上此種病例甚爲罕見，本文除報告其特徵外，並對此病做進一步的研究與討論。

關鍵字

胸腺發育不全 ； 肺動脈瓣缺失症候群 ； 胸腺 ； 低血鈣症

並列摘要

A female infant presented with cyanosis, respiratory distress and unique to-and-fro murmur which she had since the age of 1-month-old. Absent pulmonary valve syndrome was diagnosed by echocardiography. She developed seizure disorders with hypocalcemia and pneumonia at the age of 2-month-old. The patient died from sepsis, intractable respiratory and heart failure. The postmortem study confirmed the diagnosis of congenital absent pulmonary valve associated with DiGeorge syndrome.

並列關鍵字

DiGeorge syndrome ； absent pulmonary valve syndrome ； thymus ； hypocalcemia