title: A case of VACTERL and non-VACTERL association without the "V and L".
abstract: VACTERL is a cluster of congenital malformations based on the non-random association of various congenital malformations in a single patient. Here "V" denotes vertebral defects or vascular anomalies (single umbilical artery), "A" anal atresia, "C" cardiac abnormalities, "TE" tracheoesophageal fistula, "R"renal (kidney) abnormalities and "L" for limb anomalies) It is called an association, rather than a syndrome because the complications are not pathogenetically related, tend to occur more frequently than expected and are thought to be linked to embryonic mesodermal defects. Studies have reported the coexistence of various other congenital malformations such as respiratory, cerebral anomalies, which are frequently referred as non-VACTERL-type of associations. Diagnosis of VACTERL association is done only when at least three of the above mentioned congenital malformations are identified in a patient. Although 80% of these cases have vertebral defects, our case is unique as patient does not have one of the commonest occuring association i.e., vertebral anomalies, but has all other associations and an additional non VACTERL brain anomaly, hitherto unreported in the literature. The other highlight of this case is although reports say that VACTERL babies with ipsilateral renal disorder have the same side limb defects, our case has a renal anomaly with no limb anomaly. Finally VACTERL and non VACTERL association was considered in our patient in view of ventricular septal defect, tracheo esophageal fistula, anal atresia, renal anomaly, seizure disorder and global developmental delay due to pontocerebellar hypoplasia.
authors.affiliation: Department of Nuclear Medicine and PET CT, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham University, Cochin, Kerala, India.
authors.forename: S
authors.initials: S
authors.lastname: Padma
authors.affiliation: Department of Nuclear Medicine and PET CT, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham University, Cochin, Kerala, India.
authors.forename: P Shanmuga
authors.initials: PS
authors.lastname: Sundaram
authors.affiliation: Department of Nuclear Medicine and PET CT, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham University, Cochin, Kerala, India.
authors.forename: Bhavya
authors.initials: B
authors.lastname: Sonik
keywords: Crossed fused ectopic kidney; VSD; anal atresia; gastro esophageal reflux scintigraphy; methylene diphosphonate bone scan; renal and limb anomalies; tracheo esophageal fistula; vascular anomalies; vertebral defects