Asociación VACTERL de presentación inusual: reporte de caso / VACTERL Association with Unusual Presentation: Case Report / Associação VACTERL de apresentação rara: relato de caso

Resumen: En el contexto de Asociación VACTERL, el diagnóstico prenatal de atresia esofágica concomitante con atresia duodenal es poco común. En el presente artículo se realiza el reporte de un caso con la descripción de los hallazgos ecográficos encontrados a partir semana doce de gestación, con la aparición del signo de doble burbuja intraabdominal compatible con atresia duodenal y una arteria umbilical única; y hacia la semana 31 el hallazgo de imagen anecóica y dilatación esofágica del tercio distal con comunicación con la cámara gástrica en corte longitudinal, representando una atresia esofágica, asociada además a polihidramnios. Desde el momento del nacimiento por examen físico y estudios complementarios, se evidenció además ano imperforado con fístula recto vestibular, arcos costales derechos fusionados y hemivértebras. Por los anteriores hallazgos clínicos y radiológicos, se considera que se trata de una asociación VACTERL; sin embargo, sin alteraciones cardiacas, que es una de las características más frecuentemente encontradas. Se realiza una revisión del estado del arte con respecto a la asociación VACTERL y el diagnóstico prenatal de la atresia esofágica y duodenal.

Abstract: In the context of the VACTERL Association, prenatal diagnosis of concomitant esophageal atresia with duodenal atresia is rare. In this article, a case report is described with the description of the ultrasound findings found from week twelve of gestation, with the appearance of the intra-abdominal double bubble sign compatible with duodenal atresia and a single umbilical artery; and towards week 31 the finding of anechoic image and esophageal dilation of the distal-third with communication with the gastric chamber in longitudinal section, representing esophageal atresia, also associated with polyhydramnios. Physical examination and complementary studies from birth showed an imperforate anus with a rectovestibular fistula, and hemivertebrae. Based on the above clinical and radiological findings, it is considered to be a VACTERL association; however, without cardiac abnormalities, which is one of the most frequently found characteristics. A review of the state of the art is carried out with regard to the VACTERL association and the prenatal diagnosis of esophageal and duodenal atresia.

Resumo: No contexto da Associação VACTERL, o diagnóstico pré-natal de atrésia do esôfago concomitante com atrésia de duodeno é pouco comum. Neste artigo, é realizado relato de um caso com a descrição dos achados ecográficos encontrados a partir da 12a semana de gestação, com o surgimento do sinal de dupla bolha intra-abdominal compatível com a atrésia duodenal e uma artéria umbilical única; na 3ia semana, o achado de imagem anecoica e dilatação esofágica do rádio distai com comunicação com a câmara gástrica em corte longitudinal, o que representa atrésia esofágica, associada, ainda, a polidrâmnio. Desde o momento do nascimento por exame físico e estudos complementares, é evidenciado ânus imperfurado com fístula retal vestibular, arcos costais direitos fusionados e hemivértebras. A partir dos achados clínicos e radiológicos, é considerado que se trata de uma associação VACTERL; contudo, sem alterações cardíacas, que é uma das características mais frequentemente encontradas. É realizada uma revisão do estado da arte a respeito da associação VACTERL e o diagnóstico pré-natal da atrésia esofágica e duodenal.

Sirenomelia associated with VACTERL and VACTERL-H syndrome / Sirenomelia asociaciada con síndrome de VACTERL y VACTERL-H

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.

La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.

Demographic Factors, Autopsy Findings and Syndrome Diagnosis in Congenital Anomalies with Imperforate Anus

Introduction: Imperforate anus is a relatively rare birth defectin which rectum is malformed. Cases of isolate imperforateanus exist, but most commonly, this condition is found as apart of syndromes and congenital anomalies. Therefore, weconducted a prospective fetal autopsy study to know theassociation of imperforate anus in congenital anomalies,analyse the demographic factors and correctly diagnose thesyndromes.Materials and Methods: Perinatal deaths with congenitalanomalies over a period of 1 year at our institute wereincluded in the study. Standard protocol for autopsy wasfollowed in each case. External examination andanthropometric measurements were carried out. Autopsy wasconducted according to Virchow’s technique by giving amodified “Y” shaped incision starting from below the ears tosymphysis pubis encircling umbilicus on the left side. Boththorax and abdomen were opened. Internal examinationincluding viscera was done and samples were collected forhistopathological examination. Results were noted andanalysed.Results: Out of the 57cases with congenital anomalies, 9cases were found to be associated with imperforate anuswhich included VACTERL anomaly with Prune Belly syndrome,Edward’s syndrome, Fraser syndrome, OEIS complex (2cases), Ellis-Van-Creveld syndrome, TRAP baby andGastroschisis (2 cases).Conclusion: Autopsy has an important role in the diagnosis ofsyndromes and associations with imperforate anus. Our studyalso pointed at the contribution of demographic and maternalrisk factors towards these syndromes.

Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery / Analgesia neuraxial em uma parturiente com síndrome de Vacterl em trabalho de parto normal

Abstract Introduction: The term VACTERL is an acronym for an association of congenital malformations: including vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies. VACTERL anomalies pose a formidable challenge to anesthesiologists. We describe the anesthetic management of a parturient with VACTERL association, who underwent neuraxial analgesia for labor and vaginal delivery. Case report: A 23 year old primigravida at 39 weeks gestation presented in labor at 4 cm cervical dilatation, completely effaced, requesting labor analgesia. Past medical history included VACTERL association with an imperforate anus and a partial endocardial cushion defect, both repaired in early childhood. She also had significant dorso-lumbar scoliosis with an extra lumbar vertebra. An MRI performed at 14 years age revealed the above findings with no spinal cord abnormalities. With a normal neurologic exam, a combined spinal epidural technique was performed. Despite significant scoliosis, the epidural space was identified at approximately the L3-L4 interspace at a depth of 5 cm. Spinal Fentanyl 25 mcg was administered followed by continuous patient-controlled epidural analgesia. The patient experienced excellent pain relief throughout her labor, and had an uneventful vaginal delivery 5 h after epidural placement. Discussion: The rarity of VACTERL association in the obstetric population with its extensive anomalies mandates a multidisciplinary approach in the prenatal period as it can pose major challenges to all health care providers, including airway, ventilatory, cardiac and neuraxial problems. This is the first reported case of a successful and safe neuraxial technique in a laboring patient with the VACTERL association with albeit limited vertebral and spinal cord anomalies.

Resumo Introdução: O termo Vacterl é um acrônimo para uma associação de malformacões congênitas que inclui anomalias vertebral, anal, cardíaca, traqueal, esofágica, renal e dos membros (Limbs em inglês). As anomalias Vacterl representam um enorme desafio para os anestesiologistas. Descrevemos o manejo anestésico de uma parturiente com síndrome de Vacterl submetida à analgesia neuraxial para parto normal. Relato de caso: Paciente primípara, 23 anos, 39 semanas de gestação, apresentava em trabalho de parto 4 cm de dilatação cervical, apagamento completo, exigiu analgesia de parto. A história médica incluía síndrome de Vacterl com ânus imperfurado e defeito parcial do coxim endocárdico, ambos corrigidos na primeira infância. A paciente também apresentava escoliose dorso-lombar acentuada com uma vértebra lombar adicional. Uma RM feita aos 14 anos revelou os achados mencionados acima sem anormalidades na medula espinhal. Com um exame neurológico normal, a técnica anestésica combinada raquiperidural (CRP) foi usada. Apesar de escoliose significativa, o espaço peridural foi identificado próximo ao interespaço L3-L4 a uma profundidade de 5 cm. Fentanyl (25 mcg) foi administrado por via espinhal, seguido de analgesia peridural contínua controlada pela paciente. A paciente sentiu grande alívio da dor durante todo o trabalho de parto; o parto vaginal ocorreu 5 horas após a anestesia CRP sem intercorrências. Discussão: A raridade da síndrome de Vacterl na população obstétrica com suas extensas anomalias exige uma abordagem multidisciplinar no pré-natal porque pode representar grandes desafios para todos os prestadores de cuidados de saúde, inclusive problemas respiratórios, de ventilação, cardíacos e do neuroeixo. Este é o primeiro caso relatado de uma técnica neuraxial bem-sucedida e segura em uma paciente em trabalho de parto com síndrome de Vacterl, embora com anomalias limitadas da coluna vertebral e medula espinhal.

A successful pregnancy outcome in a case of maternal VACTERL / Philippine Journal of Obstetrics and Gynecology

@#Vertebral anomalies-anal atresia-cardiac abnormalities-tracheoesophageal fistula-renal agenesis-limb (VACTERL) defects association is a rare congenital disease. While most scientific literature focus on the clinical presentation and management of pediatric patients with this condition, this paper focuses on the challenges faced by a 22-year-old primigravid, who was able to carry a pregnancy to term, despite the many anomalies associated with being afflicted with VACTERL.

Clinical characteristics and prognosis of neonatal VACTERL association in 33 cases / 中国新生儿科杂志

Objective To study the clinical characteristics,treatment and prognosis of neonatal VACTERL association.Method The clinical data of newborns diagnosed with VACTERL association from January 2010 to December 2015 were collected and retrospectively analyzed.Result A total of 33 patients diagnosed with VACTERL association were included,including 23 males and 10 females.Among them,17 cases were term infants,15 cases premature infants and 1 case of overdue birth,with an admission age of 1 to 24 days.The most common deformities were cardiac anomalies (C) in 27 cases (81.8％),followed by anal atresia/anorectal malformation (A) in 25 cases (75.8％),renal deformity (R) in 24 cases (72.7％),limb abnormalities (L) in 20 cases (60.6％),Tracheoesophageal fistula (TEF) in 8 cases (24.2％) and vertebral abnormalities (V) in 3 cases (9.1％).11 cases (33.3％) had other deformities.Among these 33 patients,24 cases had 3 types of malformations and 9 cases had 4 types of malformations.The most common combination was ACR (n =8).20 patients had no abnormalites on chromosome karyotype test including 2 patients had normal gene microarray results.16 patients received surgical treatment during neonatal period and 13 of them recovered and discharged.Among the other 17 cases received no surgery,only 1 patient improved and discharged.A telephone follow-up was proceeded in 14 discharged cases at 1 year old.Among them,13 cases had good prognosis,however,the remaining one was dead.Conclusion VACTERL association is a rare non-random combination of multiple malformations.The early discovery and appropriately treatment after diagnosis will improve the prognosis and prevent death.Doctors should reinforce the ability to detect various types of deformities and examine the chromosome and gene properly.

Prenatal ultrasound diagnosis of VACTERL association / 中华医学超声杂志（电子版）

Objective To study the ultrasonic features and outcomes of VACTERL association fetuses. Methods From Jan 2003 to Sep 2013 in Shenzhen Maternity&Child Healthcare Hospital there were 55 fetuses diagnosed as VACTERL association, the prenatal ultrasonographic characteristics and outcomes were summarized. Results Ultrasonography showed that the incidence of 6 VACTERL association anomalies were:vertebral defects were 45.5%(25/55), anal atresia were 30.9%(46/55), cardiac malformations were 81.8%(45/55), tracheoesophageal ifstula/esophageal atresia were 32.7%(18/55), renal anomalies were 60.0%(33/55) and limb anomalies were 83.6%(17/55). All the 55 fetuses had 3 or more VACTERL association malformations and the characteristic ultrasonic features were as follows:(1) There were 39 cases (70.9%, 39/55) co-occur with three VACTERL malformations, the more common malformations were limb anomalies (33/39), cardiac malformations (31/39) and renal anomalies (21/39). (2) There were 13 cases (23.6%, 13/55) co-occur with four VACTERL malformations, the more common malformations were cardiac malformations (11/13), limb anomalies(10/13), renal anomalies (9/13) and tracheoesophageal ifstula/esophageal (8/13). (3) There were 3 cases (5.5%, 3/55) co-occur with ifve VACTERL malformations, they were all with anal atresia, cardiac malformations, renal anomalies and limb anomalies (3/3), and two were co-occur with vertebral defects (2/3). (4) No fetus co-occur with six VACTERL malformations. There were 29 cases (52.7%, 29/55) co-occur with other malformations, of which 21 cases (38.2%, 21/55) with single umbilical artery. All the 55 cases underwent labor induction. The results of postmortem appearance of 55 cases and autopsies of 9 cases were all consistent with prenatal ultrasound scan. Conclusions Fetuses with VACTERL association had characteristic prenatal ultrasound imaging, multiple malformations can be found and limb anomalies, cardiac malformations and renal anomalies are more common. Scanning the fetal structures from higher incidence to lower incidence of VACTERL association can be helpful to improve the diagnostic coincidence rate of VACTERL association. Prenatal ultrasound diagnosis of VACTERL association can provide guidance for clinical obstetrical management.

VACTERL Association with Meningomyelocele Combined with Trisomy 18 Syndrome

Vertebral, anal, cardiac, tracheo-esophageal, renal, and limb(VACTERL) association is defined as the presence of at least three of the above-mentioned six manifestations. An estimated incidence of the VACTERL association is 1 in 20,000 to 35,000 live births although the diagnostic criteria vary. The VACTERL association is highly heterogeneous in clinical presentation. It may represent a spectrum from the less severely affected to the more severely affected. Diagnosis is difficult because of the number of disorders that have overlapping features with trisomy 13 syndrome, trisomy 18 syndrome, trisomy 21 syndrome, Feingold syndrome, and so on. The incidence of trisomy 18 syndrome, a type of a chromosomal disorder, is estimated to be 1 in 6,000-8,000 live births. It includes characteristic craniofacial anomalies, clenched hand with overlapping of index finger over third, fifth finger over fourth, underdeveloped thumbs, short sternum, cardiac anomalies such as ventricular septal defect, and renal anomalies such as horseshoe kidney. Approximately over 50% of infants with trisomy 18 syndrome live less than one week. In 1983, Khoury et al. reported VACTERL association combined with trisomy 18 syndrome. Here, we report a case of a low birth weight female infant with VACTERL association, whose second diagnosis is Edward syndrome, and that she also has another combined anomaly, meningomyelocele. To the best of our knowledge, this is the first reported case of VACTERL association with meningomyelocele combined with trisomy 18 syndrome in Korea.

An 18-year experience of tracheoesophageal fistula and esophageal atresia / 소아과

PURPOSE: To determine the clinical manifestations and outcomes of patients with tracheoesophageal fistula (TEF) and esophageal atresia (EA) born at a single neonatal intensive care unit. METHODS: A retrospective analysis was conducted for 97 patients with confirmed TEF and EA who were admitted to the neonatal intensive care unit between 1990 and 2007. RESULTS: The rate of prenatal diagnosis was 12%. The average gestational age and birth weight were 37(+2) weeks and 2.5+/-0.7 kg, respectively. Thirty-one infants were born prematurely (32%). Type C was the most common. The mean gap between the proximal and distal esophagus was 2 cm. Esophago-esophagostomy was performed in 72 patients at a mean age of 4 days after birth; gastrostomy or duodenostomy were performed in 8 patients. Forty patients exhibited vertebral, anorectal, cardiac, tracheoesophageal, renal, limb (VACTERL) association with at least 2 combined anomalies, and cardiac anomaly was the most common. The most common post-operative complications were esophageal stricture followed by gastroesophageal reflux. Balloon dilatation was performed for 1.3 times in 26 patients at a mean age of 3 months. The mortality and morbidity rates were 24% and 67%, respectively, and the most common cause of death was sepsis. The weight of approximately 40% patients was below the 10th percentile at 2 years of age. CONCLUSION: Mortality and morbidity rates of patients with TEF and EA are high as compared to those of infants with other neonatal surgical diseases. Further efforts must be taken to reduce mortality and morbidity and improve growth retardation.

The Experience of the VATER Association in One Hospital

VATER association is defined as a combination of 3 or more anomalies- vertebra(V), imperforate anus (A), esophageal atresia with or without tracheoesophageal fistula (TE), renal and radial anomaly(R). We reviewed our experiences in one center to determine etiology, prevalence, clinical manifestation, other associated anomaly and prognosis. Two hundred and twenty-three cases that underwent operations for imperforate anus or esophageal atresia were analyzed retrospectively through medical records at Department of Pediatric Surgery, Asan Medical Center from June, 1989 to July, 2005. The total number of neonates who had been admitted during period of study were 46,773 and VATER association was 9 (0.019 %, 1.92 persons per 10,000 neonates). Median gestational age and birth weight were 37(+4)wk (35(+1) - 41(+4)) and 2,594 g (1,671-3,660), respectively and median age of mother was 32 years (23-38). There was no family history. Three patients were twins but their counterparts had no anomalies. Patients who have 3 anomalies were 6, 4 anomalies in two and 5 anomalies in one patient. Vertebra anomalies were detected in 7(77.7 %), imperforate anus in 8(88.9 %), esophageal atresia in 5 patients (55.6 %), renal anomaly in 6(66.7 %), and radial anomaly in 5(55.6 %), respectively. Four patients are alive, 2 patients were lost during follow up period. Three patients died due to neonatal sepsis, respiratory dysfunction and cardiac failure. VATER association did not appear to be a definite risk factor, but merely a randomized combination of 5 anomalies. The prognosis was dependent on the other associated anomalies, appropriateness of management and operation. Careful follow-up and aggressive treatmentare required for improving survival and quality of life.

The VACTERL Association: Tracheal Stenosis, Tracheal Bronchus and Partial Pulmonary Agenesis, Instead of Tracheoesophageal Fistula / 소아과

VACTERL association is a disease with multiple congenital anomalies of the vertebrae, anus, cardia, tracheoesophageal(TE) fistula, renal and limb. This disease is derived from VATER anomaly, accompanied by cardiac and limb anomalies. We experienced a case of a 1-day-old boy with anal atresia, who represented multiple anomalies during hospital course. The multiple anomalies were hemivertebra, anal atresia, complex heart disease(coarctation of aorta, secundum aterial septal defect, patent ductus arteriosus), horseshoe kidney, tracheal stenosis, tracheal bronchus and left upper lung agenesis. Because both trachea and esophagus arise from fetal foregut, tracheal or pulmonary anomalies may be developed in VACTERL association instead of TE fistula. VACTERL association with tracheal anomalies, such as tracheal stenosis and tracheal bronchus or pulmonary agenesis, have been reported in foreign scientific society reports. But a case of VACTERL association with both tracheal bronchus and pulmonary agenesis has not reported yet. So we report this case with a brief review of related literature and suggest the consideration of possibility of tracheal or pulmonary anomaly in VACTERL association without TE fistula.

A Case of VACTERL Association Diagnosed by Autopsy / 대한주산의학회잡지

VACTERL association is occuring in conjuction with vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis and limb defects. Additional abnormalities may include microphthalmia, abnormal lung lobulation and spleen defects. We describe a infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. A woman at 25 weeks gestaion was transferred to our hospital due to abnormal antenatal sonographic finding(molded calvarium, huge mass in abdomen, hyperechoic intestine and femur bowing). She admitted to our hospital due to decreased fetal movement 3 weeks later. Fetal death in uterus was diagnosed by sonogram. Its phenotype displays imperforated anus, absence of genital organ, absence of utrethral opeining, disunion of maxilla and mandible, varus deformity of bilateral knee joints, widening of interphalangeal space in right foot. The diagnosis was confirmed by clinical features, radiological findings, and autopsy. We reported this case of VACTERL association with review of literatures.