VACTERL association refers to the non-random co-occurrence (1 in 10,000 to 1 in 40,000 live-born infants) of vertebral anomalies (V), anal atresia (A), congenital heart defects (C), tracheoesophageal fistula (TE), renal anomalies (R) and limb defects (L) [1,2]. It is typically defined by the presence of at least three of them without clear evidence for an alternate, overlapping diagnosis [1-3]. The occurrence of VACTERL association with sacrococcygeal teratoma (SCT) is extremely rare.

A 2-day-old female neonate presented with a large sacrococcygeal lump with absent normal anal opening (Fig. 1). The patient was in respiratory distress with nasal flaring. Examination revealed vestibular fistula, fine crepitations with presence of cardiac murmur. Failure to negotiate a red rubber catheter down the esophagus suggested the presence of esophageal atresia. Radio-logical evaluation confirmed the presence of esophageal atresia with tracheoesophageal fistula (TEF), increased cardio-thoracic ratio, Altman’s type I SCT (Fig. 1), and left multicystic kidney. Thoracotomy with staged repair of Vogt type3b was performed. Postoperatively patient developed sclerema and died. Echocardiography to confirm the presence of cardiac anomalies, and tumor markers for teratoma were not possible due to resource constraints. In addition to SCT, we made a diagnosis of VACTERL association owing to presence of three anomalies in our patient.

Fig. 1 (a) Neonate with sacrococcygeal teratoma type 1,small perineum and vestibular fistula, with red rubber catheter not going beyond 10 cms into the esophagus; (b) radiograph showing dilated stomach shadow, soft tissue shadow in the sacrococcygeal region, normal vertebrae and increased cardiothoracic ratio.

VACTERL association specifically refers to the structural abnormalities derivative of the embryonic mesoderm (disruption in the proliferation, migration and differentiation of mesoderm) [1]. Epiblasts cells migrating from primitive node and proximal part of primitive streak lead to the formation of notochord, paraxial and intermediate plate mesoderm [4]. Failure of some of these epiblasts cells to migrate will lead to remnants at primitive streak which may persist in sacrococcygeal region as a teratoma[4].

We propose that VACTERL association and SCT may be more than a chance association in our patient. Clinicians should have high index of suspicion for VACTERL association in a neonate presenting with sacrococcygeal teratoma and anorectal malformation.

1. Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis. 2011;6:56.

2. Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: Evidence for its etiologic heterogeneity. Pediatrics. 1983;71:815-20.

3. Quan L, Smith DW. The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediatr. 1973;82:104-7.