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