DiGeorge Syndrome with Truncus Arteriosus: Report of One Case

DiGeorge氏症候群合併動脈幹：一病例報告

梁佩瑄(Pei-Hsuan Liang) ； 陳銘仁(Ming-Ren Chen) ； 徐世達(Shyh-Dar Shyur) ； 李燕晉(Yann-Jinn Lee) ； 林炫沛(Shuan-Pei Lin) ； 余明宗(Ming-Tsung Yu) ； 邱英世(Ing-Sh Chiu) ； 陳世杰(Shyh-Jye Chen)

《Acta Paediatrica Taiwanica》 45卷3期 (2004/06) Pp. 174-177

https://doi.org/10.7097/APT.200406.0174

摘要

DiGeorge氏症候群爲一罕見疾病，其特色爲胸腺、副甲狀腺發育不良，動脈錐異常及英武的外觀異常，而動脈幹畸形亦爲少見之先天性心臓病，兩者皆常合併染色體22q11缺失。我們報告一個DiGeorge氏症候群合併動脈幹畸形，並且以熒光原位融合法(FISH)發現染色體22q11缺失。病人於出生時發現有心雜音合併呼吸窘迫，胸部X光顯示心臓肥大，但不見胸腺陰影，血液檢查發現淋巴球低下及低血鈣，心臓超音波及心導管顯示爲動脈幹畸形。免疫學及內分泌檢查確認T細胞免疫力低下及副甲狀腺素缺乏。淋巴球於五天大時即上昇至正常範圍，血鈣經補充後亦爲正常。染色體以FISH方式偵測出22q11缺失。病童於三個月大時接受動脈幹手術矯正，術後已漸漸康複並且拔除呼吸器，但不預期的心跳停止造成腦列，並於四個月大時死亡。

關鍵字

DiGeorge氏症候群 ； 動脈幹 ； 染色體22q11缺失

並列摘要

DiGeorge syndrome is a rare disorder characterized by a spectrum of thymic and parathyroid gland abnormalities, conotruncal cardiac defects, and typical facial dysmorphism. We report a male infant with partial DiGeorge syndrome characterized by truncus arteriosus, typical facial dysmorphism, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2 deletion. Transient lymphocytopenia was noted for 5 days after birth and hypocalcemia was corrected with calcium gluconate administration. Surgical correction of the truncus arteriosus was performed at the age of 3 months. Unfortunately, the patient subsequently had an unwitnessed cardiac arrest, and despite resuscitation, died at the age of 4 months.

並列關鍵字

DiGeorge syndrome ； truncus arteriosus ； chromosome 22q11 deletion