www.symbiosisonline.org Symbiosis www.symbiosisonlinepublishing.com Research Article International Journal of Pediatrics & Child Care Open Access VATER/VACTERL Association in Palestinian Children: A Case Report Basal A Ahmed1, Elessi Khamis2* 1Specialist and Head of Pediatrics, Shaheed Mohammed Al - Durra Hospital 2Assistant Professor, Faculty of medicine, Islamic university- Gaza Received:December 13, 2017; Accepted: February 3, 2018; Published: February 6, 2018 *Corresponding author: Elessi Khamis, MD Pediatrics, Assistant Professor, Faculty of medicine, Islamic university- Gaza, E-mail: khamis_essi@yahoo. com have reported a prevalence among infants of one in 10 000 to one Abstract of at least three of the following congenital malformations: vertebral however,in 40 000 live-bornchromosomal infants abnormalities (approximately have <1-9/100,000 also been described infants) VACTERL/VATER association is typically defined by the presence [2]. Most of the cases of VACTERL association occur sporadically; defects, anal atresia, cardiac defects, tracheo-esophageal fistula, stress and usage of oral contraceptives at the initial stages of by evidence linking all of the human disease genes for the VATER/ in a few cases [3]. Maternal diabetes, teratogenic drugs, physical renal anomalies, and limb abnormalities. This finding is supported pregnancy have been suggested as possible causes [4]. VACTERL is believed to result from an early embryonic insult, more VACTERL association identified to date, namely, FGF8, FOXF1, HOXD13, LPP, TRAP1, and ZIC3, with renal malformations. VATER association was first described in 1972 by Quan and Smith. We present here a specifically of blastogenic origin occurring during the first 4 75 days male boy with cardiac (VSD, PDA), esophageal atresia, anal weeks of embryogenesis, so the expected effects are primary, abnormalities (sacral dimple), and genitourinary (hypospadias and polytopic,This early developmental embryonic field event defects can [5]lead (Figure to different 1). defects communicating hydrocele). Others abnormalities were detected ear in various body systems. VACTERL/VATER association is an deformity, sacral dimple and 13 pairs of ribs. Introduction VACTERL is a cluster of congenital malformations based on acronym for Vertebral anomalies (fusion, hypoplasia), Anorectal the non-random association of various congenital malformations malformation, Cardiac malformations (ventricular septal defect in a single patient. In addition to these core component (30%), patent ductus arteriosus (26%), atrial septal defect (20%) features, patients may also have other congenital anomalies [1]. and transposition of great arteries (10%), Tracheoesophageal Population-based epidemiological studies in Europe and the USA involvingfistula with the or radialwithout ray atresia, such Renalas radial anomalies or thumb (renal hypoplasia, agenesis, hypoplasia or even cystic dysplasia) and Limb anomalies (usually for VACTERL/VATER association has been established, and either uni- or bilateral) [6,7]. To date, no unifying etiology genetic etiology of VACTERL has not been elucidated and it is thoughtthere is tostrong be multifactorial, evidence for althoughcausal heterogeneity some cases may [8,9,10]. be due The to malformations make their appearance early in the embryological teratogenic exposure, such as maternal diabetes [11]. Some of the in embryogenesis. There is overall no strong evidence for an increasedperiod; 23–30 incidence days ofpost VACTERL conception, association while othersin certain occur areas later of the world or in specific ethnic populations [12]. The management of patients with VACTERL association can be complex and is directedDiscussion at surgical correction of specific anomalies [7]. A male baby was born at 40 weeks of gestational age through elective lower segment cesarean section to 24 years old, first degree consanguinity, fifth gravida mother. There was no history of birth defect in family. There was no significant history of any Symbiosis Group *Corresponding author email: [email protected] VATER/VACTERL Association in Palestinian Children: A Case Report Copyright: © 2018 Elessi K, et al. infection, drug intake, diabetes mellitus, or radiation exposure Limb deformities have been reported in approximately 40- during the pregnancy. The birth weight was 2.67 kg. He was 50% of patients, consist of ray abnormalities such as radial operated at age of 3 days after confirming of esophageal atresia. At malformationsaplasia or hypoplasia, are considered abnormal to be thumbs,the core componentpreaxialpolydactyly, features, revealage of 75a loud, days harsh, of his life Pan-systolic was admitted murmur to our at hospital third left due parasternal to cough, manysyndactylyand other malformations humeral hypoplasia have been[12,17,18]. described While in the affected above intercostaldyspnea associated space, posterior with poor part feeding. of the chestPhysical show examinations scar due to communicating hydrocele. An abnormal ear lobe shape, position patients [19,20]. Lautz and associated found that vertebral repair of esophageal atresia, external genital reveal hypospadias, anomaly in 25.5%, anorectal malformation in 11.6%, congenital heart disease in 59.1%, renal disease in 21.8% and limb defect in and with sacral dimple. Chest x-ray reveal cardiomegaly and 7.1%.and 33.4% had 3 or more anomalies and met criteria for a detect13 pairs any of abnormalities, ribs, echocardiography and Kidney reveal and liver (ventricular functions septal were VACTERL diagnosis [21]. Among 52 patients with EA/TEF, 20 (38, defect, patent ductus arteriosus), abdominalultrasound not 4%) had isolated EA and 7 (21, 8%) had a recognized etiology association.such a syndrome The most and therefore common wereanomalies excluded. were Among congenital 32 infants heart normal studies (Figure 2). In our patient, we detect cardiac with EA and associated malformations, 15 (46, 8%) had VACTERL (VSD, PDA), esophageal atresia, genitourinary (hypospadias and patients also had additional non-VACTERL-type defects. Single communicating hydrocele)anal abnormalities (sacral dimple). umbilicaldefects (73, artery 3%), was followed the most by vertebral common anomalies one followed (66,6%). by nervous Many Others abnormalities were detected ear deformity, sacral dimple and 13 pairs of ribs. system abnormalities and anomalies of toes [22]. In addition, to the above mentioned features, affected children may also exhibit less frequent abnormalities including growth deficiencies and infailure association to gain withweight VACTERL and grow in atlower the expectedfrequency rate like (failure facial to thrive). Practically every organ system have been reported lung lobation defects, intestinal malrotation and genital asymmetry (Hemifacial microsomia), external ear malformations, present with some known chromosomal abnormalities, including anomalies [23]. The combination of VACTERL abnormalities can trisomy 13, 18, and 5p-syndrome. Interstial deletion of long arm of chromosome 6 (6q13-15) and long arm of chromosome 13 have been reported in few cases [24]. Recent research has shown that VACTERL could be caused by defective SHH (Sonic hedgehog association will have vertebral anomalies and usually consist pathway) signaling during human embryogenesis [25]. Vertebral anomalies, 70 percent of patients with VACTERL Differential diagnosis with Trisomy 13, trisomy 18, PHAVER or hemivertebrae and Later in life, these vertebral anomalies syndrome, and Townes syndrome, CHARGE syndrome, Currarino of hypoplastic , butterfly, wedge, fusion, supernumerary, absent syndrome, deletion 22q11.2 syndrome, Fanconi anemia, should be included in differential diagnosis (Table 1) [13,26,27]. ofmay patients put the with child VACTERL at risk forassociation. developing These scoliosis anomalies [6,7,10,13]. often Anal atresia or imperforate anus is seen in about 55-90 percent Treatment is directed towards the specific symptoms that are apparent in each child, which often varies greatly. Many of require surgery in the first days of life [10,13,14]. The most thisthe structuralcondition abnormalitiesneed to be managed (radial defects,by a multidisciplinary cardiac defects, team anal common heart defects are ventricular septal defects (30%), includingatresia etc.) pediatricians, require staged cardiologists, surgical corrections. urologists, Infants orthopedic with patent ductus arteriosus (26%), atrial septal defects (20%), surgeons, otorhinolarngologists and clinical geneticist in order Coarctation of aorta, transposition of great arteries (10%) and Tetralogy of Fallot. Less common defects are truncus arteriosus with this condition depends on the severity of anomalies. and transposition of the great arteries [10,15]. A number of to have a reasonable life expectancy [24]. Prognosis for children subtypes of Tracheo-Esophageal Fistula (TEF) may occur, and includemay present polyhydramnios with or without or absent esophageal gastric atresia. bubble Overall, recognized TEF neonatalSeventy fiveand post-surgicalpercent of these facilities, children these die children early havein life a much[38]. prenatally,occurs in approximately inability to 50-80%pass nasogastric of patients. tubes Early signsimmediately of TEF betterWith improvements outcome than in reported surgical previously.techniques andNonetheless, in specialized even with optimal surgical management of cardiac defects, trachea- abnormalities include unilateral agenesis and less commonly ectopic,postnatally, horseshoe