ABSTRACT
BACKGROUND: The cause of cerebral palsy remains unknown in most cases. Factor V Leiden mutation, a common cause of hereditary thrombophilia, has been associated with CP. OBJECTIVES: To analyze the prevalence of factor V Leiden (G1691A), prothrombin (G20210A), and methylenetetrahydrofolate reductase (C677T) mutations in children with CP. METHODS: Sixty-one Jewish and Arab children with CP were studied for the presence of the three gene mutations associated with thrombophilia. RESULTS: We found that 41% of the children with CP and 33% of the controls carry one or more of the studied mutations (P = 0.348). The prevalence of the factor V mutation was 27.9% in CP and 16.4% in controls (P= 0.127). The frequency of the other two genetic factors was even less significant. The FVL mutation was found in 35% of the Arab CP patients (15/42) and in 22% of the controls from the same population (9/40) (P= 0.067). CONCLUSIONS: Each of the genetic factors studied was shown to be related to CP. Despite the high frequency of FVL among the studied patients, we were unable to prove a significant correlation between FVL and CP, mainly because this factor is frequent in the Arab control group. In this population a trend toward significance can be seen (P= 0.067). Larger studies are needed to validate the significance of these results.
Subject(s)
Cerebral Palsy/genetics , Factor V/genetics , Thrombophilia/genetics , Adolescent , Arabs , Case-Control Studies , Cerebral Palsy/etiology , Child , Child, Preschool , Female , Humans , Infant , Israel , Jews , Male , Methylenetetrahydrofolate Dehydrogenase (NADP)/genetics , Prothrombin/genetics , Risk Factors , Thrombophilia/complicationsABSTRACT
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.
