title: Niemann-Pick disease type C presenting as neonatal hepatitis: report of one case.
abstract: 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.
authors.affiliation: Department of Pediatrics, National Nursing College Hospital, Taiwan, R.O.C.
authors.forename: L S
authors.initials: LS
authors.lastname: Fu
authors.forename: T C
authors.initials: TC
authors.lastname: Wu
authors.forename: C R
authors.initials: CR
authors.lastname: Lai
authors.forename: B
authors.initials: B
authors.lastname: Huang
mesh_terms: D006505:Hepatitis / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000378:metabolism; D013109:Sphingomyelins / Q000378:metabolism
chemical_list: D013109:Sphingomyelins