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Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema
Author(s) -
DanielSpiegel Etty,
Ghalamkarpour Arash,
Spiegel Ronen,
Weiner Ehud,
Vikkula Miikka,
Shalev Eliezer,
Shalev Stavit Alon
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1237
Subject(s) - medicine , hydrops fetalis , polyhydramnios , lymphedema , missense mutation , edema , pregnancy , surgery , pediatrics , gestation , mutation , cancer , breast cancer , biochemistry , chemistry , genetics , gene , biology
Objectives To report a rare case of primary congenital lymphedema (PCL) presenting as hydrops fetalis. Methods The patient presented at 33 +4 weeks' gestation with polyhydramnios, massive bilateral hydrothorax, skin edema, scalp edema and minimal ascites. In utero thoracocentesis was performed and delivery was induced. Follow‐up at 12 months of age revealed moderate bilateral foot edema with otherwise normal development. Results The diagnosis of PCL was suspected on the basis of the family history. DNA analysis revealed a novel missense mutation, E1106K, in the tyrosine kinase domain of the vascular endothelial growth factor receptor 3 gene (VEGFR3/ FLT4 ). Conclusion PCL should be considered in the differential diagnosis of hydrops fetalis. Knowledge of the favorable course, variable clinical presentation, therapy options and genetic basis should contribute to better pregnancy counseling and management. Copyright © 2005 John Wiley & Sons, Ltd.