title: Fetal ascites: an unusual presentation of Niemann-Pick disease type C.
abstract: 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.
authors.affiliation: Department of Child Health, King's College Hospital, London.
authors.forename: I K
authors.initials: IK
authors.lastname: Maconochie
authors.forename: S
authors.initials: S
authors.lastname: Chong
authors.forename: G
authors.initials: G
authors.lastname: Mieli-Vergani
authors.forename: B D
authors.initials: BD
authors.lastname: Lake
authors.forename: A P
authors.initials: AP
authors.lastname: Mowat
mesh_terms: D001201:Ascites / Q000209:etiology*; D005260:Female; D005315:Fetal Diseases / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D009542:Niemann-Pick Diseases / Q000150:complications*; D011247:Pregnancy