title: Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure.
abstract: Fetal exposure to primidone was associated with Goldenhar syndrome, hemifacial microsomia, tetralogy of Fallot, aqueductal stenosis, and anterior encephalocele in this male infant. No similar cases in anticonvulsant-exposed pregnancies were found on literature review, despite the increased incidence of other anomalies following such exposure. Goldenhar syndrome, especially related to rare central nervous system anomalies, is reviewed. Experimental production of hemifacial microsomia by a folic acid antagonist, triaxene, is mediated via hemorrhage in the fetus. Intraventricular hemorrhage was noted in this infant as were dilated lateral and third ventricles. The hemorrhagic diathesis and/or the folic acid depletion of newborns following fetal anticonvulsant exposure may have been the underlying mechanism.
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000139:chemically induced / Q000000981:diagnostic imaging; D002535:Cerebral Aqueduct; D003251:Constriction, Pathologic; D004677:Encephalocele / Q000139:chemically induced* / Q000000981:diagnostic imaging / Q000473:pathology; D004827:Epilepsy / Q000188:drug therapy; D005260:Female; D006053:Goldenhar Syndrome / Q000139:chemically induced* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008342:Mandibulofacial Dysostosis / Q000139:chemically induced*; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D011324:Primidone / Q000009:adverse effects*; D014057:Tomography, X-Ray Computed
chemical_list: D011324:Primidone