6-(2,3-Dichlorodiphenyl)-1,2,4-Triazine-3,5-Diamine Use in Pregnancy and Body Stalk Anomaly- A Possible Association?

Body Stalk Anomaly is a rare malformation syndrome characterized by anterior abdominal wall defect, kyphoscoliosis, limb reduction, rudimentary umbilical cord, craniofacial defects and anomalies of the chest wall. The association between antiepileptic drugs, such as Lamotrigine [6-(2,3-dichlorophenyl)- 1,2,4-triazine-3,5-diamine], and the development of such malformation have been studied for many years. Many studies can be found regarding the teratogenic potential of Lamotrigine, but they have contradictory results. We present the case of a 34-year old pregnant, caucasian woman, known with acquired epilepsy due to neurocysticercosis for which she is under treatment with Lamotrigine 400mg/day. The patient was examined at 12 weeks of gestational age, when the ultrasound images showed a large defect in the fetal abdominal wall: eviscerated liver and bowel outside the coelomic cavity, kyphoscoliosis, a short umbilical cord, nuchal translucency 2.8mm, mandibular retrognathism. Based upon the aforementioned ultrasound findings we considered the diagnosis to be Body Stalk Anomaly and recommended a medical abortion. Embryological remainings were sent to pathology and genetic department revealing Turner Syndrome. We consider important to detect typical features of the anomaly in the first trimester and distinguish it from other abdominal defects like omphalocele and gastroschisis, since the conditions imply different management. Another important issue is to be aware about the treatment with Lamotrigine.

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