Choriocarcinoma presenting in an infant or neonate is a rare entity th
at in the past has been uniformly fatal. The authors present the first
reported case of choriocarcinoma successfully treated in a 3-week-old
infant. Choriocarcinoma was not suspected in this case until patholog
ic examination revealed the diagnosis. In retrospect, however, the cas
e fits well into the classic ''infantile choriocarcinoma syndrome'' in
itially described by Witzleben in 1968. Review of additional cases rep
orted since the initial description validates Witzleben's initial obse
rvations and also indicates that the original definition should be bro
adened to include other significant presentations of the disease not i
nitially appreciated, specifically anemic infants with central nervous
system symptoms as well as newborns and older children. The importanc
e of making a correct and rapid diagnosis is emphasized by the success
ful outcome in this case where aggressive surgery and subsequent chemo
therapy have been curative. Serum beta-human chorionic gonadotropin (b
eta-HCG) levels have been uniformly positive, providing easy confirmat
ion of the diagnosis. Because the mother can also be affected, an appr
opriate diagnosis of the infant may also lead to more rapid diagnosis
and treatment of the mother.