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頁籤選單縮合
題名 | Corneal Opacity and Congenital Glaucoma Associated with Massive Heparan Sulfaturia: Report of One Case=大量Heparan Sulfaturia合併角膜白濁及先天性青光眼:一病例報告 |
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作者 | 林世強; 胡芳蓉; 侯家瑋; 饒宇東; 王作仁; 洪伯廷; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷期 | 40:1 民88.01-02 |
頁次 | 頁46-49+62 |
分類號 | 417.674 |
關鍵詞 | 黏多醣; 硫酸肝素; 角膜白濁; 先天性青光眼; Sanfilippo's症候群; Mucopolysaccharidosis; Heparan sulfate; Corneal opacity; Congenital glaucoma; Sanfilippo's syndrome; |
語文 | 英文(English) |
中文摘要 | 一名四個月大男嬰自從出生就被發現有角膜白濁的現象,求診時,眼科學檢查發 現球狀角膜、眼壓增加、角膜白濁合併新生血管增生。病童臉部外觀無明顯異常,無多毛現 象,肝脾亦無腫大;此外,病童被發現有低肌肉張力、且無 Moro 及抓握反射。血清學檢查並 無先天性感染的證據,血液及尿液中的氨基酸檢查在正常範圍內;然而尿液的薄膜色層分析 顯示尿液含有大量的 heparan sulfate。病童在六個月大時接受角膜移植手術,角膜的切片 檢查發現 Bowmen's membrane 有增厚的現象以及角膜基質細胞內有粉紅色的物質, 且 Alcian blue 染色呈陽性反應,此組織病理的變化符合黏多醣症角膜的診斷。尿液的薄膜色 層分析及組織病理的變化支持此病童是黏多醣症第三型的診斷。但因黏多醣症第三型的臨床 表現並未有角膜白濁的報告,所以此病童可能是黏多醣症第三型的另一種表現。 |
英文摘要 | A four month-old male infant was noted to have had severe corneal opacity since birth. Buphthalmos, increased intraocular pressure and corneal opacity with neovascularization were noted during physical examination. There was neither dysmorphic face nor hirsutism and the liver and spleen were impalpable. In addition, hypotonia, poor head control, and absence of Moro and grasping reflexes were also noted. There was no evidence of congenital infection by TORCH study. Tests of both urine and plasma amino acids were within normal limits. However, excessive urinary excretion of heparan sulfate was detected by thin-layer chromatography. Corneal transplantation was performed at 6 months old. Histopathological examination of the corneal button showed homogeneous thickening of Bowmen's membrane and intracytoplasmic pinkish substances in corneal stroma. The Alcian blue stain was positive, which was consistent with mucopolysaccharidosis of cornea. The manifestation of this case may be a clinical variant of Sanfilippo's syndrome (Mucopolysaccharidosis type Ⅲ ) |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。