Prenatal ultrasound findings in a fetus diagnosed with Gaucher's disease (type 2) at birth

S Rowlands; H Murray

doi:10.1002/(sici)1097-0223(199708)17:8<765::aid-pd122>3.0.co;2-3

Prenatal ultrasound findings in a fetus diagnosed with Gaucher's disease (type 2) at birth

Prenat Diagn. 1997 Aug;17(8):765-9. doi: 10.1002/(sici)1097-0223(199708)17:8<765::aid-pd122>3.0.co;2-3.

Authors

S Rowlands¹, H Murray

Affiliation

¹ Maternal Fetal Medicine Department, Westmead Hospital, New South Wales, Australia.

PMID: 9267901
DOI: 10.1002/(sici)1097-0223(199708)17:8<765::aid-pd122>3.0.co;2-3

Abstract

A 26-year-old woman with no significant history was found to have a fetus with hepatosplenomegaly and neurological abnormalities in utero on ultrasound. The baby was found to have a severe clinical manifestation of type 2 Gaucher's disease.

Publication types

Case Reports

MeSH terms

Adult
Female
Fetal Diseases / diagnostic imaging
Gaucher Disease / diagnosis
Gaucher Disease / diagnostic imaging*
Hepatomegaly / diagnostic imaging
Humans
Pregnancy
Splenomegaly / diagnostic imaging
Ultrasonography, Prenatal*