Journal of Advances in Medicine and Medical Research,
Aim: The aim is to highlight the causal relationship of perinatal exposure to carbamazepine and neural tube defect as well as the implication of missed perinatal diagnosis of this severe neurologic abnormality.
Presentation of Case: We present a term baby with lumbosacral meningomyelocele delivered to a 34-year-old primigravid woman who had been treated with Carbamazepine for generalised epileptic seizures for 1 year prior to conception and which she continued for the 38 weeks duration of her pregnancy. Second and 3rd trimester abdominal ultrasound examinations did not pick the defects. Significant examination findings at presentation included bilateral Talipes Equinovarus deformity; lumbosacral cystic swelling measuring 7cm by 5 cm,anal and urinary sphincter dysfunction.
Discussion/Conclusion: We speculate that severe maternal folate deficiency from the prolonged use of Carbamazepine coupled with the absence of folate supplementation was responsible for spinal defect observed in this baby. The prospect for prevention including antenatal diagnosis is discussed.