Dental Treatment of A Child with Digeorge Syndrome: A Case Report

狄喬治症候群是一種基因缺陷而產生之罕見疾病。於多數病例中，第22對染色體會有缺失的現象，此染色體缺失已知為22q11.2，因此狄喬治症候群又稱為染色體22q11.2缺失症候群。這種患者之發生率約為1：4000。患者會有不同形式之表徵，但共通點是常有心臟之缺損，免疫力低下而造成經常之感染，及顏面結構之異常。其發生的原因是由於胎兒成長及細胞分化異常，這些變異發生在第三及第四咽袋，為後期發展成胸腺及副甲狀腺區域，影響免疫力缺乏。其口內相關症狀包括顎咽閉鎖不全，可能會合併顎裂；小嘴；口顏部肌肉低張力；唾液分泌異常；琺瑯質發育不良而較易致齲齒。本病例報告呈現一位3歲女童，她與她弟弟都已診斷為狄喬治症候群患者，有嚴重齲齒及無法合作進行門診牙科治療，因此在全身麻醉下作牙科治療。本報告將討論此種病患牙科治療應注意事項及比較本病患與一般此症候群病患之異同。

關鍵字

狄喬治症候群；染色體22q11.2缺失症候群；牙科治療

並列摘要

DiGeorge syndrome (DGS) is a rare disorder resulting from the chromosome deletion. It is discovered that deletion in chromosome 22q11.2 are present in most patients with DGS. This disorder is also called ＂chromosome 22q11.2 deletion syndrome.＂The incidence of DGS is around one per 4000 to 5000 newborns. It accompanies variable clinical phenotypes and different abnormalities such as congenital heart defects, craniofacial abnormalities. Embryologic defect involving the third and fourth bronchial pouches and arches leads to thymic aplasia (hypoplasia) and parathyroid gland disorder. These problems result in immunodeficiency. The common oral findings in DGS are velopharyngeal incompetence with or without cleft palate, small mouth, hypotonic musculature of orofacial areas, impaired saliva secretion, enamel hypoplasia and hypomineralization and dental caries, etc. This case report presents a 3-year-old girl with DiGeorge syndrome. She had severe dental caries and without ability to cooperate to receive dental treatment at outpatient department. She received full mouth dental treatment under general anesthesia. Her younger brother was also be diagnosed of DiGeorge syndrome. This report will discuss of the treatment need of dental aspect and compare the differences between this patient and other patients with DGS.

並列關鍵字

DiGeorge syndrome ； 22q11.2 Deletion syndrome ； Dental treatment

國際替代計量

Dental Treatment of A Child with Digeorge Syndrome: A Case Report

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