Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: A methamizole embryopathy?


      Newborns prenatally exposed to methimazole (active metabolite of carbamizole) for maternal hyperthyroidism may present some disorders in common, but the phenotype is not well defined. Choanal atresia is the most frequent, and other anomalies such as esophageal atresia and aplasia cutis were described with this embryopathy. Additionally, patent omphalomesenteric duct or Meckel's diverticulum in similar association was reported in some patients. The predisposed genetic background has to be considered. We report the case of a newborn exposed to carbamizole during the first 4 weeks of pregnancy and define an association related to prenatal methamizole exposure consisting of esophageal atresia, small omphalocele, and ileal prolapse through a patent omphalomesenteric duct.

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        • Su Pu.-Y.u.
        • Kun H.
        • Jia-Hu H.
        • et al.
        Maternal thyroid function in the first twenty weeks of pregnancy and subsequent fetal and infant development: a prospective population-based cohort study in China.
        J Clin Endocrinol Metab. 2011; 96: 3234-3241
        • Lazarus J.H.
        Antithyroid drug treatment in pregnancy.
        J Clin Endocrinol Metab. 2012; 97: 2289-2291
        • Azizi F.
        • Amouzegar A.
        Management of hyperthyroidism during pregnancy and lactation.
        Eur J Endocrinol. 2011; 164: 871-876
        • Seoud M.
        • Nassar A.
        • Usta I.
        • et al.
        Gastrointestinal malformations in two infants born to women with hyperthyroidism untreated in the first trimester.
        Am J Perinatol. 2003; 20: 059-062
        • Acebron A.
        • Aza-Blanc P.
        • Rossi D.L.
        • et al.
        Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.
        J Clin Invest. 1995; 96: 781-785
        • Crisera C.A.
        • Connelly P.R.
        • Marmureanu A.R.
        • et al.
        TTF-1 and HNF-3P in the developing tracheoesophageal fistula: further evidence for the respiratory origin of the ‘distal esophagus’.
        J Ped Surg. 1999; 34: 1322-1326
        • Ramirez A.
        • Espinosa de los Monteros A.
        • Parra A.
        • et al.
        Oesophageal atresia and TOF in two infants born to hyperthyroid women receiving methimazole during pregnancy.
        Am J Med Genet. 1992; 44: 200-202
        • Clementi M.
        • Di Gianantonio E.
        • Pelo E.
        • et al.
        Methamizole embryopathy: delineation of the phenotype.
        Am J Med Genet. 1999; 83: 43-46
        • Yoshihara A.
        • Noh J.Y.
        • Yamaguchi T.
        • et al.
        Treatment of Graves' disease with antithyroid drugs in the first trimester of pregnancy and the prevalence of congenital malformation.
        J Clin Endocrinol Metab. 2012; 97: 2396-2403
        • Kannan L.
        • Mishra S.
        • Agarwal R.
        • et al.
        Carbimazole embryopathy–bilateral choanal atresia and patent vitello-intestinal duct: a case report and review of literature.
        Birth Defects Res Part A. 2008; 82: 649-651
        • Koenig D.
        • et al.
        Birth defects observed with maternal carbimazole treatment: six cases reported to Nice's Pharmacovigilance Center.
        Ann Endocrinol. 2010; 71: 535-542
        • Chen C.-H.
        • Xirasagar S.
        • Lin C.-C.
        • et al.
        Risk of adverse perinatal outcomes with antithyroid treatment during pregnancy: a nationwide population-based study.
        BJOG. 2011; 118: 1365-1373
        • Clementi M.
        • Di Gianantonio E.
        • Cassina M.
        • et al.
        Treatment of hyperthyroidism in pregnancy and birth defects.
        J Clin Endocrinol Metab. 2010; 95: E337-E341

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      • Erratum
        Journal of Pediatric SurgeryVol. 49Issue 12
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          In the paper entitled, “Esophageal atresia, small omphalocele and ileal prolapse through a patent omphalomesenteric duct: A methamizole embryopathy?” (J Pediatr Surg 2013; 48[6]:e9-e11) the drug used to treat hyperthyroidism is methimazole (MMI), and not methamizole which is an analgesic and antipyretic drug.
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