Role of thrombophilic factors in full-term infants with neonatal encephalopathy

Neonatal encephalopathy (NE) is a serious condition, primarily seen following hypoxia-ischemia (HI). Two different patterns of brain injury can be recognized on magnetic resonance imaging (MRI): white matter/watershed (WM/WS) or basal ganglia/thalamus (BGT) injury. Whether these patterns of injury can be attributed to different associated risk factors still needs to be established.

In 118 infants with clinical signs of NE following perinatal HI, thrombophilic factors, such as factor V Leiden and prothrombin gene mutation, C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, and plasma levels of homocysteine and lipoprotein(a), were prospectively investigated. Antenatal and perinatal variables were studied.

WM/WS injury was seen in 45 infants, BGT injury in 40, and normal neuroimaging in 33. Antenatal factors did not differ across these groups. The BGT pattern was associated with lower Apgar scores, whereas the WM/WS pattern was associated with hypoglycemia (<2.0 mmol/l), CT or TT 677 polymorphism in the MTHFR gene, and plasma homocysteine levels in the upper quartile.

In infants with NE following perinatal HI, the WM/WS pattern of injury was associated with hypoglycemia, the MTHFR 677CT or TT genotype, and higher levels of plasma homocysteine. BGT injury showed an association with signs suggestive of acute HI.