López MHC, Romero CLC, Tavera TR, Carrasquel VM, Díaz BC

Language: Spanish
References: 13
Page: 37-42
PDF size: 333.48 Kb.

ABSTRACT

The VACTER or VACTERL association is a pathology with low prevalence in our environment, it is characterized by different congenital malformations and takes its name from the acronym corresponding to this group of malformations that occur: Vertebral Anomalies, Anal Atresia, Cardiovascular, Tracheo-Esophageal fistula, Renal and extremities (Limbs). The prevalence of this condition is 1/10,000 live births and in Mexico only 141 cases have been reported, so the objective of this article is the report of the first clinical case presented at the University Hospital of Puebla, and its surgical management. This is a female patient with a prenatal diagnosis at 32.2 weeks of gestation by magnetic resonance imaging, with single umbilical artery, esophageal atresia associated with polyhydramnios, duodenal atresia vs duodenal stenosis, ectrodactyly of the left foot, mesomelia of the left pelvic limb, dilation of the intestinal loop and thoracic hemivertebra. During birth, the intensive care unit assessed the diagnosis of imperforate anus, renal hypoplasia, and atrial septal defect, large patent ductus arteriosus, and moderate pulmonary arterial hypertension; therefore, it is considered that it is a VACTERL association; being a rare condition, it is important that there is adequate prenatal control in order to carry out a timely clinical and surgical approach.

REFERENCES

1. Siebel S, Solomon BD. Mitochondrial factors and VACTERL association-related congenital malformations. Mol Syndromol. 2013; 4: 63-73. doi: 10.1159/000346301.

2. Chen Y, Liu Z, Chen J, Zuo Y, Liu S, Chen W, et al. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J Med Genet. 2016; 53: 431-437. doi: 10.1136/jmedgenet-2015-103554.

3. Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, et al. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 2014; 164: 451-457.e1. doi: 10.1016/j.jpeds.2013.10.086.

4. Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis. 2011; 6: 56. doi: 10.1186/1750-1172-6-56.

5. Santos J, Nogueira R, Pinto R, Cerveira I, Pereira S. First trimester diagnosis of VACTERL association. Clin Pract. 2013; 3: e5. doi: 10.4081/cp.2013.e5.

6. Huamán-Rodríguez M, Cortez-Espejo C, Chavarry-Rodríguez L, Castañeda-Guzmán I, Cortez-Ponce de León C, Coral-Torres P, et al. Case report: newborn with VACTERL association and tracheomalacia. Rev Méd Trujillo. 2022; 17: 38-42. doi: 10.17268/rmt.2022.v17i1.4266.

7. García-Guzmán AE, Aparicio-Rodríguez JM. Asociación congénita VACTERL: reporte de catorce casos en un Hospital Pediátrico de Tercer Nivel. Rev Mex Cir Pediatr. 2014; 18: 96-104.

8. Ávila-Iglesias MC, Rojas-Maruri CM. VACTERL association. Presentation of an anatomoclinical case and general considerations. Acta Pediatr México. 2017; 38: 330-336.

9. Concha MGB. Descripción de las anomalías morfológicas congénitas encontradas en pacientes diagnosticados con asociación VACTERL. [Cd de México]: Universidad Nacional Autónoma de México; 2020.

10. Rodríguez Z. Asociación VACTER: reporte de un caso. Rev Mex Pediatr. 2013; 80: 109-113.

11. Valencia T, Pardo NA, Llanos M, Sierra J, Alarcón L. Asociación VACTERL de presentación inusual: reporte de caso. Rev Med. 2020; 28: 59-67.

12. Wheeler PG, Weaver DD. Adults with VATER association: long-term prognosis. Am J Med Genet A. 2005; 138A: 212-217. doi: 10.1002/ajmg.a.30938.

13. Lin HY, Lin SP, Lin HY, Hsu CH, Chang JH, Kao HA, et al. Functional independence of Taiwanese children with VACTERL association. Am J Med Genet A. 2012; 158A: 3101-3105. doi: 10.1002/ajmg.a.33643.