Expect the unexpected: neuroblastoma in a patient with the VACTERL association.

Abstract

The VACTERL association is characterised by a variable combination of vertebral defects, anorectal malformation, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities. Malignant tumours are not usually detected in these patients.We present the case of an infant diagnosed with the VACTERL association at birth due to an anorectal malformation, cardiac and vertebral anomalies. Further imaging was obtained to investigate potential spinal cord anomalies. This scan detected an incidental left adrenal mass. Diagnostic work-up including biopsy confirmed the adrenal mass as an intermediate risk left adrenal neuroblastoma with encasement of the left renal vessels and superior mesenteric artery.To our knowledge, this is the first case of an infant patient with the VACTERL association and simultaneous diagnosis of a neuroblastoma. This case demonstrates how careful expert review of specialist imaging can incidentally reveal unexpected findings which require a significant alteration of a patient's treatment pathway.