Prevalence of tethered spinal cord in infants with VACTERL

Abstract

The term VACTERL represents a nonrandom association of birth defects including vertebral malformations, anal atresia, cardiac anomalies, tracheoesophageal fistulas (TEFs), renal anomalies, and limb malformations. Clinical experience and a few published case series suggest that a tethered spinal cord (TSC) occurs commonly in children with VACTERL, but to date, no study has defined the prevalence of TSC in patients with VACTERL. Such information would guide decisions about the appropriateness of screening spinal imaging. The authors reviewed the charts of all patients discharged from the neonatal intensive care unit at Children's Hospital Pittsburgh in the past 14 years with the diagnosis of VACTERL, TEF, or anal atresia. During that period, the authors' protocol has been to use spinal ultrasound to screen this population for TSC. The charts were reviewed for the presence of a TSC requiring surgery and for the features of VACTERL. Thirty-three patients with VACTERL and adequate spinal imaging studies were identified. In 13 (39%) of these, a TSC requiring surgery was identified. Among patients without VACTERL, the incidence of TSC was 7.9% in those with anal atresia and 2.4% in those with TEF. False-negative ultrasounds were identified in 21.4% of patients with TSC. Children with VACTERL should undergo MR imaging screening for TSC. In infants with anal atresia without VACTERL, the incidence of TSC is much lower than in those with VACTERL.