查詢結果分析
來源資料
相關文獻
- Zellweger Syndrome: Report of One Case
- Magnetic Resonance Cholangiography for Evaluation of Cholestatic Jaundice in Neonates and Infants
- 新生兒嬰兒之腦神經發展與其異常發現
- 運動後低血壓反應與血壓控制之探討
- 單一性肌肉纖維瘤
- 懷孕週數與低出生體重及極低出生體重嬰兒盛行率之研究
- 我國出生通報制度建立後對嬰兒死亡率之影響分析
- 臺灣地區嬰兒利用兒童預防保健服務之調查研究
- 3-D影像在脊椎和頭部之應用
- Gastric Body Index in the Evaluation of Vomiting Neonates
頁籤選單縮合
題名 | Zellweger Syndrome: Report of One Case=Zellweger症候群:一病例報告 |
---|---|
作者 | 李秀芬; 麥淑珍; 吳豐偉; 遲景上; 黃嵩雀; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷期 | 42:1 民90.01-02 |
頁次 | 頁53-56 |
分類號 | 417.517 |
關鍵詞 | 過氧脢體; 低血壓; 肝腫大; Zellweger症候群; 嬰兒; Zellweger syndrome; Peroxisome; Hypotonia; Hepatomegaly; |
語文 | 英文(English) |
中文摘要 | Zellweger症候群爲一體染色體隱性遺傳疾病,病患通常於新生兒時期死亡。我們報告一位三個月大的男嬰,因自出生後就出現低張力合併肝腫大而到院求診。臨床上病患有臉部特征:包括大而寬的前囪門、眼距過遠、內皆贅皮、塌鼻。生化檢驗發現血中非常長鏈酯肪酸值上昇,肝臓切片的電鏡檢查發現缺乏過氧小體,進而證實此一病例。我們認爲,臨床上若發現低張力合併肝腫大的嬰兒,應將此疾病列入鑑別診斷以及早提供遺傳咨詢及産前診斷。 |
英文摘要 | Zellweger syndrome is a fatal autosomal-recessive hereditary disease characterized by the absence of peroxisomes in liver and kidneys. The absence of peroxisomes results in impairment of many metabolic pathways, especially beta-oxidation of very long chain fatty acids (VLCFAs). We report a case of a three-month-old male infant with facial dysmorphism, hypotonia, psychomotor retardation, and hepatomegaly. He had an elder brother with the same facial features and hypotonia who died of hepatic failure at four months of age. Biochemical studies revealed elevation of blood pipecolic acid and VLCFAs, compatible with peroxisomal disorder. Electron microscopy of liver biopsy revealed absence of peroxisomes. Zellweger syndrome was diagnosed. Because this syndrome is usually fatal in early life, genetic counseling and prenatal diagnosis are crucial. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。