- 期刊
Zellweger Syndrome: Report of One Case
Zellweger症候群：一病例報告
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。
並列摘要
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.
延伸閱讀
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