A 4-year-old girl is found to have a smooth, firm left loin mass. Blood pressure is elevated at 118/76 mmHg. CT shows a large mass arising from the left kidney that displaces but does not cross the midline, with the inferior vena cava compressed but patent. Which associated congenital anomaly is most classically linked with this tumour?

• A Elevated urinary vanillylmandelic acid
• B Opsoclonus-myoclonus syndrome
• C Aniridia ✓
• D Raccoon eyes and periorbital ecchymosis

Explanation

The findings describe Wilms tumour, the commonest childhood renal malignancy. It is associated with WAGR syndrome, comprising Wilms tumour, aniridia, genitourinary anomalies, and range of developmental delay, linked to deletion of WT1 on chromosome 11p13. Opsoclonus-myoclonus, raised VMA, and periorbital ecchymosis are features of neuroblastoma, which arises from the adrenal medulla or sympathetic chain, characteristically crosses the midline, encases vessels, and raises catecholamine metabolites.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.