Pompe Disease in Children and A Case Report

龐貝氏症－全身麻醉下牙科治療

馮群超(Chun-Chau Feng) ； 張雅筑(Ya-Chu Chan) ； 江顯雄(Hsien-Hsiung Chiang) ； 孫國丁(Kuo-Ting Sun)

《臺灣兒童牙醫學雜誌》 11卷3期 (2011/12) Pp. 80-84

https://doi.org/10.6319/TJPD.2011.11(3).6

摘要

龐貝氏症是位於第十七對染色體上的基因缺陷導致體內負責轉化肝糖為葡萄糖的酵素acid α-glucosidase活性降低，人體無法獲得正常之能量供給而日益虛弱。全身的細胞都會受到影響，尤其以心臟及肌肉系統最嚴重。嬰兒型患者症狀在前幾個月就會出現，包括四肢軟弱、呼吸困難和心臟衰竭，但其智能發展正常，通常患者在一歲前會死亡。而晚發型患者，相對於嬰兒型患者，則可能到成年後才出現肌肉無力的症狀。本病例為一位兩歲六個月診斷為龐貝氏症的女童，因接受語言治療時按摩臉頰會痛才由母親帶來本院兒童牙科就診。檢查後發現口內多顆乳牙嚴重齲齒及殘根。經診斷及相關評估後，在全身麻醉下進行全口齲齒治療及乳牙套復形，目前仍定期回診檢查。

並列摘要

Pompe disease is the gene defect located on the seventeenth of chromosome, leading to the reduction of enzyme acid α-glucosidase activity which is responsible for conversion of glycogen to glucose. The affected ones will become weaker due to insufficient supply of energy. Body cells could be affected, especially the cardiac and muscular system. Infantile symptoms occur in the first few months, including limb weakness, breathing difficulties and heart failure, but intellectual development is normal, such patients usually die before their fi¬rst birthday. The late-onset patients, compared with the infantile ones, symptom of muscle weakness may not appear until adulthood. This case is a two-and-a-half years old girl diagnosed with Pompe disease brought by her mother to our pediatric dental clinic, complaining of pain when massaging the cheeks during speech therapy. From the oral and dental examination, multiple primary tooth deep caries and residual roots were noted. After the diagnosis and evaluation, full mouth dental caries treatment and stainless steel crown restoration were performed under general anesthesia. The patient still regularly returned for check up visit at present.