Fetal ascites: an unusual presentation of Niemann-Pick disease type C.
Open Access
- 1 October 1989
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 64 (10 Spec No) , 1391-1393
- https://doi.org/10.1136/adc.64.10_spec_no.1391
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.This publication has 2 references indexed in Scilit:
- Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patientsClinical Genetics, 1988
- Progression of Neurovisceral Storage Disease With Supranuclear Ophthalmoplegia Following Orthotopic Liver TransplantationPediatrics, 1986