Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema
E Daniel‐Spiegel, A Ghalamkarpour… - … in Affiliation With the …, 2005 - Wiley Online Library
Prenatal Diagnosis: Published in Affiliation With the …, 2005•Wiley Online Library
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 …
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 …
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.
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