Association of type I choledochal cyst, type III esophageal atresia, evanescent testicle, and clinodactyly: A case report
Choledochal cyst is a congenital anomaly of the bile duct without associated pathology as compared to esophageal atresia, whose pathology is usually part of the VACTERL association list (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalit...
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Published in | Journal of pediatric surgery case reports Vol. 93; p. 102655 |
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01.06.2023
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Abstract | Choledochal cyst is a congenital anomaly of the bile duct without associated pathology as compared to esophageal atresia, whose pathology is usually part of the VACTERL association list (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities). In addition to these core component features, patients may also have other congenital anomalies.
A single case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, is reported for the first time. A cytogenetic study reports an apparently normal male with a 46 XY karyotype, GTG bands, 400–550 band resolution, and extended exome sequencing without alterations. Esophageal plasty, hepatic-duodenal bypass in early childhood, and resection of the evanescent testicle with fixation of the contralateral testicle were performed at one year of age. We observed a satisfactory evolution after four years and four months of follow-up.
In this report, we present this novel case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, which has not been previously reported in the literature.
•A unique case featuring an association of choledochal cyst type 1, type III esophageal atresia, evanescent testicle and clinodactyly.•Surgical exploration with cholangiography is the gold standard to differentiate between choledochal cyst and type 1 cystic biliary atresia in newborns.•Hepaticoduodenal bypass in early childhood is an effective management strategy for choledochal cysts. |
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AbstractList | Introduction: Choledochal cyst is a congenital anomaly of the bile duct without associated pathology as compared to esophageal atresia, whose pathology is usually part of the VACTERL association list (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities). In addition to these core component features, patients may also have other congenital anomalies. Case presentation: A single case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, is reported for the first time. A cytogenetic study reports an apparently normal male with a 46 XY karyotype, GTG bands, 400–550 band resolution, and extended exome sequencing without alterations. Esophageal plasty, hepatic-duodenal bypass in early childhood, and resection of the evanescent testicle with fixation of the contralateral testicle were performed at one year of age. We observed a satisfactory evolution after four years and four months of follow-up. Conclusion: In this report, we present this novel case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, which has not been previously reported in the literature. Choledochal cyst is a congenital anomaly of the bile duct without associated pathology as compared to esophageal atresia, whose pathology is usually part of the VACTERL association list (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities). In addition to these core component features, patients may also have other congenital anomalies. A single case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, is reported for the first time. A cytogenetic study reports an apparently normal male with a 46 XY karyotype, GTG bands, 400–550 band resolution, and extended exome sequencing without alterations. Esophageal plasty, hepatic-duodenal bypass in early childhood, and resection of the evanescent testicle with fixation of the contralateral testicle were performed at one year of age. We observed a satisfactory evolution after four years and four months of follow-up. In this report, we present this novel case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, which has not been previously reported in the literature. •A unique case featuring an association of choledochal cyst type 1, type III esophageal atresia, evanescent testicle and clinodactyly.•Surgical exploration with cholangiography is the gold standard to differentiate between choledochal cyst and type 1 cystic biliary atresia in newborns.•Hepaticoduodenal bypass in early childhood is an effective management strategy for choledochal cysts. |
ArticleNumber | 102655 |
Author | Paz-Ramirez, Monserrat Velez-Blanco, Hayde Morales-Mendez, Maria-Del-Carmen Lopez-Mendez, Lucia Anza-Escandon, Raul Escárcega-Fujigaki, Pastor Sanchez-Martinez, Maria-Elena Hernandez-Peredo-Rezk, Guillermo Gallardo-Meza, Antonio-Francisco |
Author_xml | – sequence: 1 givenname: Pastor orcidid: 0000-0001-9341-8980 surname: Escárcega-Fujigaki fullname: Escárcega-Fujigaki, Pastor email: drpastor_ef@yahoo.com organization: Department of Pediatric Surgery, Centro de Alta Especialidad Dr. Rafael Lucio, Av Adolfo Ruiz Cortines, 2903, Col. Unidad Magisterial, Xalapa, Veracruz, Mexico – sequence: 2 givenname: Guillermo surname: Hernandez-Peredo-Rezk fullname: Hernandez-Peredo-Rezk, Guillermo organization: Department of Pediatric Surgery, Centro de Alta Especialidad Dr. Rafael Lucio, Av Adolfo Ruiz Cortines, 2903, Col. Unidad Magisterial, Xalapa, Veracruz, Mexico – sequence: 3 givenname: Hayde surname: Velez-Blanco fullname: Velez-Blanco, Hayde organization: Department of Neonatology, Centro de Alta Especialidad Dr. Rafael Lucio, Xalapa, Veracruz, Mexico – sequence: 4 givenname: Lucia surname: Lopez-Mendez fullname: Lopez-Mendez, Lucia organization: Department of Neonatology, Centro de Alta Especialidad Dr. Rafael Lucio, Xalapa, Veracruz, Mexico – sequence: 5 givenname: Raul surname: Anza-Escandon fullname: Anza-Escandon, Raul organization: Department of Anesthesiology, Centro de Alta Especialidad Dr. Rafael Lucio, Xalapa, Veracruz, Mexico – sequence: 6 givenname: Antonio-Francisco surname: Gallardo-Meza fullname: Gallardo-Meza, Antonio-Francisco organization: Department of Pediatric Surgery, Hospital General de Occidente, Guadalajara, Jalisco, Mexico – sequence: 7 givenname: Monserrat surname: Paz-Ramirez fullname: Paz-Ramirez, Monserrat organization: Department of Genetics, Centro de Alta Especialidad Dr. Rafael Lucio, Xalapa, Veracruz, Mexico – sequence: 8 givenname: Maria-Elena surname: Sanchez-Martinez fullname: Sanchez-Martinez, Maria-Elena organization: Department of Medical Pediatrics, Centro de Alta Especialidad Dr. Rafael Lucio, Xalapa, Veracruz, Mexico – sequence: 9 givenname: Maria-Del-Carmen surname: Morales-Mendez fullname: Morales-Mendez, Maria-Del-Carmen organization: Department of Neonatology, Centro de Alta Especialidad Dr. Rafael Lucio, Xalapa, Veracruz, Mexico |
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Cites_doi | 10.3389/fped.2022.947876 10.2214/ajr.181.5.1811387 10.1055/s-2008-1066476 10.1007/BF02349784 10.1002/bdra.23067 10.1016/0002-9610(77)90359-2 10.4103/1319-3767.98425 10.1016/j.jpedsurg.2011.09.056 10.1002/bdra.20592 10.1016/j.jpedsurg.2013.07.020 10.1007/BF00183744 10.1186/1750-1172-6-56 10.4103/jiaps.JIAPS_73_19 10.1002/ajmg.1320560209 10.1016/S1665-2681(19)31797-1 10.1016/0022-3468(95)90059-4 10.1016/0011-3840(92)90025-X 10.1016/j.sempedsurg.2020.150942 |
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Keywords | CC CBA CBD USG Choledochal cyst Vanishing testicle Case report Clinodactyly Esophageal atresia GB EA HD EUL MRC |
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biliary atresia publication-title: Acta Paediatr Taiwanica contributor: fullname: Huang – volume: 18 start-page: 230 year: 2012 ident: 10.1016/j.epsc.2023.102655_bib5 article-title: Choledochal cysts: a review of literature publication-title: Saudi J Gastroenterol doi: 10.4103/1319-3767.98425 contributor: fullname: Bhavsar – volume: 24 start-page: 868 year: 2014 ident: 10.1016/j.epsc.2023.102655_bib9 article-title: Choledochal cyst--a different disease in newborns and infants publication-title: J Coll Physicians Surg Pak contributor: fullname: Nazir – volume: 47 start-page: 506 year: 2012 ident: 10.1016/j.epsc.2023.102655_bib15 article-title: Timing of surgery for prenatally diagnosed asymptomatic choledochal cysts: a prospective randomized study publication-title: J Pediatr Surg doi: 10.1016/j.jpedsurg.2011.09.056 contributor: fullname: Diao – volume: 85 start-page: 747 year: 2009 ident: 10.1016/j.epsc.2023.102655_bib1 article-title: Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current concepts publication-title: Birth Defects Res A Clin Mol Teratol doi: 10.1002/bdra.20592 contributor: fullname: Felix – volume: 129 start-page: 47 issue: 1 year: 2001 ident: 10.1016/j.epsc.2023.102655_bib10 article-title: Kongenitalna dilatacija zucnih puteva (kongenitalna cista holedohusa [Congenital dilatation of the common bile duct (congenital choledochal cyst)] publication-title: Srp Arh Celok Lek contributor: fullname: Savić – volume: 48 start-page: 2336 year: 2013 ident: 10.1016/j.epsc.2023.102655_bib21 article-title: Hepaticoduodenostomy versus hepaticojejunostomy after resection of choledochal cyst: a systematic review and meta-analysis publication-title: J Pediatr Surg doi: 10.1016/j.jpedsurg.2013.07.020 contributor: fullname: Narayanan – volume: 11 start-page: 130 year: 1996 ident: 10.1016/j.epsc.2023.102655_bib22 article-title: The management of choledochal cyst in the newborn publication-title: Pediatr Surg Int doi: 10.1007/BF00183744 contributor: fullname: Burnweit – volume: 6 start-page: 56 year: 2011 ident: 10.1016/j.epsc.2023.102655_bib3 article-title: VACTERL/VATER association publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-6-56 contributor: fullname: Solomon – volume: 25 start-page: 155 year: 2020 ident: 10.1016/j.epsc.2023.102655_bib23 article-title: Conservative management of major anastomotic leaks occurring after primary repair in esophageal atresia with fistula: role of extrapleural approach publication-title: J Indian Assoc Pediatr Surg doi: 10.4103/jiaps.JIAPS_73_19 contributor: fullname: Kulshrestha – volume: 56 start-page: 161 year: 1995 ident: 10.1016/j.epsc.2023.102655_bib12 article-title: Choledochal cyst associated with rare hand malformation publication-title: Am J Med Genet doi: 10.1002/ajmg.1320560209 contributor: fullname: Dudin – volume: 8 start-page: 156 year: 2009 ident: 10.1016/j.epsc.2023.102655_bib11 article-title: Congenital choledochal cyst in an infant with cystic fibrosis publication-title: Ann Hepatol doi: 10.1016/S1665-2681(19)31797-1 contributor: fullname: Tabatabaie – volume: 30 start-page: 474 year: 1995 ident: 10.1016/j.epsc.2023.102655_bib8 article-title: Biliary amylase and congenital choledochal dilatation publication-title: J Pediatr Surg doi: 10.1016/0022-3468(95)90059-4 contributor: fullname: Davenport – volume: 4 start-page: 209 year: 2014 ident: 10.1016/j.epsc.2023.102655_bib13 article-title: Type I choledochal cyst – an atypical presentation and an unusual association with single umbilical artery publication-title: Res Rep Neonatol contributor: fullname: Nga – volume: 29 start-page: 361 year: 1992 ident: 10.1016/j.epsc.2023.102655_bib7 article-title: Choledochal cyst publication-title: Curr Probl Surg doi: 10.1016/0011-3840(92)90025-X contributor: fullname: O'Neill – volume: 29 year: 2020 ident: 10.1016/j.epsc.2023.102655_bib20 article-title: Long-term morbidity and follow-up after choledochal malformation surgery; A plea for a quality of life study publication-title: Semin Pediatr Surg doi: 10.1016/j.sempedsurg.2020.150942 contributor: fullname: de Kleine |
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Snippet | Choledochal cyst is a congenital anomaly of the bile duct without associated pathology as compared to esophageal atresia, whose pathology is usually part of... Introduction: Choledochal cyst is a congenital anomaly of the bile duct without associated pathology as compared to esophageal atresia, whose pathology is... |
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StartPage | 102655 |
SubjectTerms | Case report Choledochal cyst Clinodactyly Esophageal atresia Vanishing testicle |
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Title | Association of type I choledochal cyst, type III esophageal atresia, evanescent testicle, and clinodactyly: A case report |
URI | https://dx.doi.org/10.1016/j.epsc.2023.102655 https://doaj.org/article/002c3d74575747f0a2efb074195879f6 |
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