1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-4-35 10.15844/pedneurbriefs-4-5-4 Toxic Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Fetal Hydantoin Syndrome http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 05 1990 01 08 2016 4 5 35 36 Copyright: © 1990 The Author(s) 1990 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Prenatal prediction of risk of the fetal hydantoin syndrome

In a prospective study of 19 pregnancies monitored by amniocentesis at the Center for Human Genetics and the Meyer Rehabilitation Institute, University of Nebraska, Omaha, an adverse outcome was predicted for four fetuses on the basis of low epoxide hydrolase activity (30% of standard).

 Amniocentesis Phenytoin Monotherapy Enzymatic Biomarker

In a prospective study of 19 pregnancies monitored by amniocentesis at the Center for Human Genetics and the Meyer Rehabilitation Institute, University of Nebraska, Omaha, an adverse outcome was predicted for four fetuses on the basis of low epoxide hydrolase activity (30% of standard). The mothers were receiving phenytoin monotherapy and the infants had clinical characteristics of the fetal hydantoin syndrome. Fifteen fetuses with enzyme activity above 30% of the standard had no features of the syndrome. The authors suggest that this enzymatic biomarker may be useful in the prediction of infants at increased risk for congenital malformations induced by anticonvulsant drugs. [1]

COMMENT. Anticonvulsant drugs that are metabolized to form oxidative intermediates (epoxides) pose the greatest teratogenic risk to the fetus. The measurement of the enzyme involved with the biotransformation of the epoxide to a less toxic metabolite may serve as a biomarker of the fetus at high risk for the fetal hydantoin syndrome.

The clinical characteristics of the fetal hydantoin syndrome include upturned nose, midfacial hypoplasia, long upper lip, absent cupid's bow, hirsutism of face, back, arms, and legs, nail hypoplasia, hypotonia with delayed motor development, and poor weight gain.

 Buehler BA Delimont D van Waes M Finnell RH Prenatal prediction of risk of the fetal hydantoin syndrome N Engl J Med 1990 May 31 322 22 1567 1572 10.1056/NEJM199005313222204 2336087