Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema.
(2005) Prenatal Diagnosis — Vol. 25, n° 11, p. 1015-1018 (2005)
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- Abstract
- 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.
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Citations
Daniel-Spiegel, E., Ghalamkarpour, A., Spiegel, R., Weiner, E., Vikkula, M., Shalev, E., & Shalev, S. A. (2005). Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema. Prenatal Diagnosis, 25(11), 1015-1018. https://doi.org/10.1002/pd.1237 (Original work published 2005)