Niemann-Pick disease type C presenting as neonatal hepatitis: report of one case
Fu, L.S.; Wu, T.C.; Lai, C.R.; Huang, B.
Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi Zhonghua Minguo Xiao Er Ke Yi Xue Hui 36(3): 221-226
1995
ISSN/ISBN: 0001-6578 PMID: 7618476 Document Number: 453787
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.