- 期刊
Niemann-Pick Disease Type C Presenting as Neonatal Hepatitis: Report of One Case
C型Niemann-Pick氏症以新生兒肝炎表現：一病例報告
摘要
一位三個月大之中國男嬰因稽延性黃疸，體重增加不良，進行性肝脾腫大及極端昇高之阿爾發胎兒蛋白值，因而衩診斷爲新生兒肝炎。Niemann-Pick氏症經屍體解剖發現抱合髓燐脂堆積於多處器官且肝臓中之抱合髓燐脂分解酵素活性正常而得以證實。此病例爲國人首例報告之C型Niemann-Pick氏症。故在台灣之新生兒肝炎併肝脾腫大時應將此症列入鑑別診斷。
並列摘要
A three-month old Chinese male infant was a victim of neonatal hepatitis presenting with prolonged jaundice, poor body weight gain, progressive hepatosplenomegaly and extremely elevated serum alphafetoprotein level. Niemann-Pick disease (NPD) type C was confirmed by autopsy, which revealed sphingolmyelin deposition in multiple visceral organs, and normal sphingomyelinase activity in liver. This is the first case of NPD type C in Taiwan. In idiopathic neonatal hepatitis with hepatosplenomegaly here, NPD type C must be taken into consideration.
延伸閱讀
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