Fu L S, Wu T C, Lai C R, Huang B
Department of Pediatrics, National Nursing College Hospital, Taiwan, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995 May-Jun;36(3):221-6.
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 alpha-fetoprotein 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.
一名三个月大的中国男婴是新生儿肝炎的受害者，表现为黄疸持续时间延长、体重增加不佳、进行性肝脾肿大以及血清甲胎蛋白水平极度升高。尸检确诊为C型尼曼-匹克病（NPD），结果显示多个内脏器官有鞘磷脂沉积，而肝脏中的鞘磷脂酶活性正常。这是台湾首例C型NPD病例。在此类伴有肝脾肿大的特发性新生儿肝炎中，必须考虑C型NPD。
