黏多醣儲積症第三型A亞型（聖菲利伯氏症A型）之牙科處置－病例報告

黏多醣儲積症是一群遺傳性的代謝疾病，因先天缺乏分解黏多醣所需之某一種特定水解酶，致使黏多醣體－葡萄糖胺聚醣逐漸堆積於身體各處。此疾病的患者在母體中及剛出生時並無異樣，隨著年紀增長體內逐漸堆積葡萄糖胺聚糖，會慢慢損及病童的外貌即相關生理功能。黏多醣儲積症第三型（聖菲利伯氏症）在台灣的發生率為每十萬新生兒中會有0.39位患者，此類病患主要堆積的黏多醣體為硫酸乙醯肝素，主要受影響的是中樞神經系統，病患從1歲起會有漸進性的行為問題，例如發展遲緩、過動，至青少年階段會因為智能逐漸退化，最終失去自主行為的功能。外觀異常的表徵則較其他類型輕微，可能會有濃眉、厚唇、鼻頭圓潤，而口腔表徵則常見巨舌、前齒開咬、阻生齒等等。本篇病例報告為一位罹患黏多醣儲積症第三型A亞型的13歲男童，於全身麻醉下進行全口牙科治療。

關鍵字

黏多醣儲積症；聖菲利伯氏症；牙科治療；全身麻醉

並列摘要

Mucopolysaccharidosis are a group of inherited metabolic disorder, caused by a deficiency in the enzymes involved in the lysosomal degeneration of the glycosaminoglycan. Pregnancy and delivery are usually uneventful and early development is typical normal. With the gradual accumulation of degenerated glycosaminoglycan in the body, they will slowly damage the appearance and physical related functions of the children. The incidence of the mucopolysaccharidosis type III (Sanfillipo symdrom) in Taiwan was 0.39 per 100,000 live birth. Sanfillipo symdrom is an autosomal recessive disorder, caused by accumulation of haparan sulfate. Central nervous system involvement only occurs in the forms with haparan sulfate accumulation . Progressive behavioral problems are a predominate symptom in Sanfillipo patients. First signs are usually developmental delay or some behavioral problems like hyperactivity or impulsivity which decline with age and eventually disappear due to the progressive mental retardation, finally resulting in complete loss of initiative. Facial dysmorphology frequently mild. Patients may have mild prominent broad eyebrows, thick lips, and nose tip may appear fleshy. The common oral findings are marcroglossia, anterior open bite, impact teeth and so on. This case report is about a full mouth dental treatment under general anesthesia of a 13 years old boy with Sanfillipo A.

並列關鍵字

mucopolysaccharidosis ； sanfillipo ； dental treatment ； general anesthesia

國際替代計量

黏多醣儲積症第三型A亞型（聖菲利伯氏症A型）之牙科處置－病例報告

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