Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy

Abstract

This report highlights the possibility that PH/CBZ therapy during fetal organogenesis can induce sirenomelia, by a synergistic teratogenic effect and support the recommendation to use only one drug in pregnant epileptic women. A careful ultrasound monitoring of these patients is mandatory due to the teratogenic risk of both seizures and therapy.

Exposure to methylergonovine maleate as a cause of sirenomelia

“…It is well known that sirenomelia may be caused by toxic exposition during early pregnancy. There are consistent data, for example, that relate exposure to carbamazepine and phenobarbital to the development of sirenomelia (Tica et al, ).…”

“…Sirenomelia is classically outlined as the presence of a single median symmetrical inferior limb with the knees facing backward and the heels forward, and it is associated with agenesis of the kidneys and bladder, imperforate anus, and absent external genitalia (Castori et al, 2010). The spectrum of lower limb anomalies in sirenomelia is varied in range, (Twickler et al, 1993;Hentschel et al, 2006) Blastogenetic/vascular Chemical/toxic exposure (Orioli et al, 2011;Tica et al, 2013) Vascular Fever >38 in the first trimester from cases of simple fusion of the tissue, to the most serious cases of a single limb. Current classification schemes have identified seven variants of sirenomelia (Orioli et al, 2011).…”

Epilepsy and antiepileptic medications

“…One case of sirenomelia in a still born from a mother who was on phenobarbital (0.1 g/day), and carbamazepine (0.4 g/day) during the first four months of her pregnancy, followed by only phenobarbital (0.1 g/day) until delivery was reported from a hospital in Craiova, Romania (Tica 2013).…”

Sirenomelia: Case Report

“…33 year old woman whom has had two healthy and alive children from three preganancies was consulted to our perinatology clinic at 13 weeks of gestation. 3 Sirenomelili fetüslerin %22'si diyabetik anne bebeğidir. 4,5 Hastalığın patogenezinde öne çıkan iki teori; vasküler çalma sendromu ve defektif blastogenez hipotezidir.…”

“…6 Tica ve ark., fenobarbital ve karbamazepin kullanan bir gebede sirenomeli olgusuna rastladık-larını bildirmişlerdir. 3 Ağır metal maruziyeti ile sirenomeli arasında ilişki olduğunu gösteren yayın-lar da mevcuttur. 7,8 Sendrom özellikle %15-20 oranında monozigotik ikiz gebelikler ile ilişkili bulunmuştur.…”