Fetal ascites: an unusual presentation of Niemann-Pick disease type C.
Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.
Maconochie
I K
IK
Department of Child Health, King's College Hospital, London.
Chong
S
S
Mieli-Vergani
G
G
Lake
B D
BD
Mowat
A P
AP
D001201:Ascites / Q000209:etiology*; D005260:Female; D005315:Fetal Diseases / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D009542:Niemann-Pick Diseases / Q000150:complications*; D011247:Pregnancy