International Journal of Health Sciences and Research www.ijhsr.org ISSN: 2249-9571

Case Report

A Case Report of VACTERL Association and Management of Its Renal Component

Sachin Harish Jangle1, Kailash Rameshwardas Gindodia2, Mohammed Mobin Siddiqui3

1Second Year Surgery Resident, A.C.P.M Medical College, Dhule 2Associate Professor, A.C.P.M Medical College, Dhule 3Associate Professor, Department of Urology, A.C.P.M Medical College, Dhule, Maharashtra, India.

Corresponding Author: Sachin Harish Jangle

Received: 05/03//2014 Revised: 07/04/2014 Accepted: 10/04/2014

ABSTRACT

VACTERL association is a useful acronym for a condition characterised by the sporadic, non-random association of specific birth defects of multiple organ systems. We report such case having congenital Renal, Vertebral and Limb defect; and management of its renal component at our institute.

Key words: VACTERL, VATER, Renal component.

INTRODUCTION tracheo-esophageal fistula) in the immediate VACTERL/VATER association is postnatal period, followed by long-term typically defined by the presence of at least medical management of sequelae of the three of the following congenital congenital malformations. If optimal malformations: vertebral defects, anal surgical correction is achievable, the atresia, cardiac defects, tracheo-esophageal prognosis can be relatively positive, though fistula, renal anomalies, and limb some patients will continue to be affected by abnormalities. In addition to these core their congenital malformations throughout component features, patients may also have life. Importantly, patients with VACTERL other congenital anomalies. [1,2] Although association do not tend to have diagnostic criteria vary, the incidence is neurocognitive impairment. We report such estimated at approximately 1 in 10,000 to 1 case which presented with Lumbar scoliosis in 40,000 live-born infants. Antenatal and with left radial club hand but on further diagnosis can be challenging, as certain work-up was found to have anomalies of component features can be difficult to vertebrae, kidneys and hence was labelled as ascertain prior to birth. The management of a case of VACTERL association. patients with VACTERL/VATER association typically centers around surgical CASE REPORT correction of the specific congenital A three years old female child was anomalies (typically anal atresia, certain brought to us with complaining of failure to types of cardiac malformations, and/or thrive and excessive crying during

International Journal of Health Sciences & Research (www.ijhsr.org) 305 Vol.4; Issue: 5; May 2014 micturation noticed by parents. she was born for surgery for salvaging Left Kidney and its at term by normal delivery following an function. Patient was taken for surgery after uneventful pregnancy and there was no fitness. Left extended McBurney’s incision significant past medical or surgical was taken, peritoneum was reflected and history.she was the first child of non- Megaureter located it was traced upto consanguineous parents and there was no junction with bladder (UV junction)(fig 3). family history of congenital Ureter was clamped and divided at UV anomalies.History of oral contraceptive pills junction. Lower end was transfixed. Then taken during pregnancy. ureter was open longitudinally till L3 level. On physical examination there was The redundant portion of ureter was excised scoliosis at lumbar vertebral region with no so as to refashion a ureter of normal calibre other genitourinary anomalies. Plain X ray on infant feeding tube of 6 fr size. Ureteric KUb was showing Hemi vertebra at L3 with wall was closed with continuous Vicryl 4-0 lumbar scoliosis(fig 1). suture. Excess length of ureter was excised . HER lab reports showed in such way that remaining ureter was . Hb 9.5gm brought to bladder without tension. This . Urine NAD newly refashioned ureter was reimplanted . Blood urea 20mg% into the bladder by LEADBETTER . S creatinine 0.9% POLITANO TECHNIQUE. [3] Infant USG was done which was suggestive of feeding tube was brought out suprapubicaly absence of Right kidney at normal position and bladder was closed with Foley’s in situ. and Massive Hydronephrosis with Infant feeding tube was removed after 8 Megaureter on left side (fig 2). days and Foley’s was removed after 10 days. IVP was advised which shows Right Post operative recovery was uneventful. hypo plastic unascended kidney with Regular follow up was taken. Follow up Hydronephrosis and Hydroureter IVP done after 6 months which was showing (megaureter) on left side (fig 1). normal functioning of left kidney (fig 4). So diagnosis of VACTERL association was done and patient was planned to take

Fig 1 Pre op IVP Fig 2 USG showing Megaureter

International Journal of Health Sciences & Research (www.ijhsr.org) 306 Vol.4; Issue: 5; May 2014

Fig 3 Intra op Fig. 4 Post op IVP

DISCUSSION anomalies may put the child at risk for VACTERL association is a developing scoliosis. mnemonically useful acronym for a A - Anal atresia: Anal atresia or condition characterised by the sporadic, non- imperforate anus is seen in about 55 percent random association of specific birth defects of patients with VACTERL association. in structures derived from the embryonic C - Cardiovascular anomalies: Up to mesoderm. Each letter in VACTERL three-quarters of patients with VACTERL represents the first letter of one of the more association have been reported to have common findings seen in affected cases. congenital heart disease. The most common VACTERL association was first reported by heart defects seen with VACTERL Corcora et al. in 1975. [1] but only 1.0% of association are ventricular septal defects, such cases present the full range of atrial septal defects and Tetralogy of Fallot. anomalies. [2] For getting labelled as Less common defects are truncus arteriosus VACTERL there should be atleast three out and transposition of the great arteries. of the following seven T-E - Tracheoesophageal fistula: findings. [4] Esophageal atresia with tracheo-esophageal V - Vertebral anomalies: Vertebral fistula (TE fistula) is seen in about 70 anomalies usually consist of hypoplastic percent of patients with VACTERL (small) vertebrae or hemivertebra (where association . only one half of the bone is formed). About R - Renal (Kidney): Renal defects are seen 70 percent of patients with VACTERL in half the patients with malformation of one association will have vertebral anomalies. In or both kidneys or obstructive uropathy. early life these anomalies rarely cause any L- Limb defects: Limb defects seen in up difficulties, although the presence of these 70 percent of babies include absent or defects on a chest x-ray may alert the displaced thumbs, polydactyly, syndactyly physician to other defects associated with and forearm (includng radial VACTERL. Later in life, these vertebral aplasia) and leg defects.

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In addition, to the above mentioned suggested that the VACTERL association features, affected children may also exhibit may possibly occur with increased less frequent abnormalities including growth frequency in children whose mothers have deficiencies and failure to gain weight and taken the cholesterol-lowering statin drugs grow at theexpected rate (failure to thrive). in the first trimester of pregnancy. Prognosis Furthermore defects of practically every is overall poor and depends upon the extent organ system have been reported in and combination of deformities and the association with VACTERL in lower quality of available healthcare. If detected in frequency [5] like facial asymmetry utero(by sonography) before viability, (hemifacial microsomia), external ear termination of pregnancy can be offered. malformations, lung lobation defects, intestinal malrotation and genital CONCLUSION anomalies.- VACTERL shows some Knowledge of VACTREL anomaly pheonotypic overlap with many other has initiated us in investigating the patient conditions including Feingold syndrome, and diagnosing the renal anomaly early. CHARGE syndrome, 22qll deletion Early diagnosis has led to early syndrome. Townes-Brocks syndrome, management, thus saving the child from Pallister-Hallsyndrome, Fanconi anemia becoming a “RENAL CRIPPLE” spectrum, Goldenhar Syndrome, Nager syndrome, caudal regression syndrome, REFERENCES sirenomelia, electrodactyly-ectodermal 1. Corcoran R, Entwistle GD. Letter: dysplasia syndrome, Jarcho-Levin syndrome polycystic ovarian disease and oral and Klippel- Fiel syndrome. Some contraception. Lancet 1975;21:1386– researchers have added an (S) to the 87. VACTERL acronym to represent a single 2. Khoury MJ, Cordero JF, Greenberg umbilical artery instead of the normal two. F, James LM, Erickson JD. A Mental functioning and intelligence is population study of the VACTERL usually unaffected; developmental association: evidence for its etiologic delay/mental retardation should suggest an heterogeneity. Pediatrics 1983;71: alternative diagnosis. VACTERL is seen 815–20. more frequently in infants born to diabetic 3. Steffens J, Stark E, Haben B, Treiyer mothers. The birth prevalence varies from A. Politano-Leadbetter ureteric 1:3,500 to 1.6:10,000 and is rarely seen reimplantation. BJU Int. Sep 2006; more than once in one family. The reason it 98 (3):695-712 is called an association, rather than a 4. Harjai MM, Holla RG, Kale CR. Full syndrome is that while all of the birth spectrum of VACTERL in new born defects are linked, it is still definitely MJAFI 2008;64:84-85 unknown which genes or sets of genes cause 5. Kallen K, Mastroiacovo P, Castilla these birth defects to occur. A disruption in EE, Robert E,Kallen B. VATER differentiating mesoderm in first 4-5 weeks non-random association of has been suggested to be the basis for such a [6] congenital malformations: Study non-random association. Besides recent based on data from four research has shown that VACTERL could malformation registers. Am J Med be caused by defective Shh (Sonichedgehog Genet 2001;101:26-32 pathway) signaling during human 6. Botto LD, Khoury MJ, Mastroiacovo embryogenesis. [7] Some reports have also International Journal of Health Sciences & Research (www.ijhsr.org) 308 Vol.4; Issue: 5; May 2014

P , Castilla EE, Moore CA, 7. Arsic D, Qi BQ, Beasley SW. Skjaerven R et al. The spectrum of Hedgehog in the human: a possible congenital anomalies of the VATER explanation for the VATER association: An international study. association. J Paediatr Child Health Am J Med Genet 1997;71:08-15. 2002;38(2):117-21

How to cite this article: Jangle SH, Gindodia KR, Siddiqui MM. A case report of VACTERL association and management of its renal component. Int J Health Sci Res. 2014;4(5):305-309.

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