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Organo Oficial de la Secretaria de Salud de Quintana Roo

2018, Number 39

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Salud Quintana Roo 2018; 11 (39)

Association of vertebral defects, imperforate anus, esophageal atresia with fistula, esophageal trachea and polydactyly (VACTERL) related to carbamazepine

Valle-Partida A, Padrón AG

Language: Spanish
References: 25
Page: 13-15
PDF size: 359.11 Kb.


ABSTRACT

Introduction. In 1973 Quan L, et al., reported the case of VATER association (vertebral defects, anal atresia, T-E fistula with esophageal atresia, renal dysplasia). Ten years later, Khoury MJ, et al., already reported about the VACTERL association that takes its name from the acronym that corresponds to congenital malformations that characteristically occur: vertebral malformations, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, kidney malformations and limb dysplasia (limbs) mainly in the radial bone.
Clinical case. Term newborn, obtained by caesarean section of mother 36 years of age, exogenous obesity and first pregnancy, with epilepsy from 18 years of age, treated with carbamazepine 600 mg a day. In the physical examination and cabinet studies, the diagnosis of VACTERL association is integrated (esophageal atresia with tracheoesophageal fistula, anorectal malformation, right renal agenesis, right thumb malformation, ventricular septal defect and persistence of the ductus arteriosus).
Conclusion. The etiology of this association is sporadic and environmental influence has been implicated in cases of maternal diabetes, in utero exposure to estrogen/progesterone, statins and doxorubicin. Misoprostol has been pointed out as the cause of this association. In this case, the chronic use of carbamazepine is striking because of its teratogenic possibilities. On the other hand, several genetic mutations have also been found as the cause of these anomalies such as the gene (HOXD13) and the PCSK5 mutation, in such a way that study and genetic counselling are indispensable in any patient with anorectal and upper limb malformations.


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