VACTERL association with polycystic kidney disease in a newborn: a case report
DOI:
https://doi.org/10.24265/horizmed.2021.v21n3.11Keywords:
Anorectal malformations, Tracheoesophageal fistula, Polycystic kidney diseasesAbstract
Malformations are important causes of infant mortality, chronic disease and disability in many countries, causing 3.2 million disabilities per year. The VATERL association includes vertebral defects, anal atresia, tracheoesophageal fistula and renal dysplasia, as well as limb abnormalities. This case report aims to provide the general characteristics of the VACTERL association and discuss other cases found in the medical literature. This is the case of a female newborn delivered at 35 weeks of pregnancy with severe respiratory distress, who was admitted to the neonatal ICU due to hemodynamic decompensation. She had a history of bilateral polycystic kidney disease found by ultrasound at 25 weeks of pregnancy. A physical examination showed vaginal agenesis and imperforate anus. Atelectasis, cardiomegaly and dextroposition of the cardiac silhouette were observed in a radiography. The patient was diagnosed with VACTERL association and imperforate anus. She died 2 days after a respiratory arrest.
Downloads
References
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(3): 451-7.e1.
Hatemi AC, Gursoy M, Ceviker K, Tongut A, Cetin G, Celebi S, et al. Ventricular septal defect closure in a patient with VACTERL syndrome: anticipating sequelae in a rare genetic disorder. Tex Heart Inst J. 2008; 35(2): 203-5.
Endoh N, Igawa HH, Sugihara T. VACTERL association with a cleft hand. Congenit Anom (Kyoto). 2003; 43(3): 180-3.
Bhagat M. VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. Oxf Med Case Reports. 2015; 2015(1): 164-6.
Piro E, Mandy Schierz IA, Giuffré M, Cuffaro G, La Placa S, Antona V, et al. Etiological heterogeneity and clinical variability in newborns with esophageal atresia. Ital J Pediatr. 2018; 44(1): 19.
Rollins MD, Russell K, Schall K, Zobell S, Castillo RF, Eldridge L, et al. Complete VACTERL evaluation is needed in newborns with rectoperineal fistula. J Pediatr Surg Case Rep. 2014; 49(1): 95-8.
Teo XL, Narasimhan KL, Yiing Chua JH. Mullerian agenesis in the presence of anorectal malformations in female newborns: a diagnostic challenge. Singapore Med J. 2015; 56(5): e82-4.
Wataganara T, Grunebaum A, Chervenak F, Wielgos M. Delivery
modes in case of fetal malformations. J Perinat Med. 2017; 45(3): 273-9.
Poryo M, Paes LA, Pickardt T, Bauer UMM, Meyer S, Wagenpfeil S, et al. Somatic development in children with congenital heart defects. J Pediatr. 2018; 192: 136-43.e4.
Al-Lawati TT. Fibropolycystic disease of the liver and kidney in Oman. Arab J Gastroenterol. 2013; 14(4): 173-5.
Cunningham BK, Khromykh A, Martinez AF, Carney T, Hadley DW, Solomon BD. Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 2014; 100(10): 801-5.
Totonelli G, Catania VD, Morini F, Fusaro F, Mosiello G, Iacobelli BD, et al. VACTERL association in anorectal malformation: effect on the outcome. Pediatr Surg Int. 2015; 31(9): 805-8.
Totonelli G, Morini F, Catania VD, Schingo PM, Mosiello G, Iacobelli BD, et al. Anorectal malformations associated spinal cord anomalies. Pediatr Surg Int. 2016; 32(8): 729-35.
Kanasugi T, Kikuchi A, Haba G, Sasaki Y, Isurugi C, Oyama R, et al. Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. Congenit Anom (Kyoto). 2016; 56(5): 237-9.
Published
How to Cite
Issue
Section
License
Copyright (c) 2021 Horizonte Médico (Lima)
This work is licensed under a Creative Commons Attribution 4.0 International License.
Horizonte Médico (Lima) (Horiz. Med.) journal’s research outputs are published free of charge and are freely available to download under the open access model, aimed at disseminating works and experiences developed in biomedical and public health areas, both nationally and internationally, and promoting research in the different fields of human medicine. All manuscripts accepted and published in the journal are distributed free of charge under the terms of a Creative Commons license – Attribution 4.0 International (CC BY 4.0).
