Hepatoblastoma in an infant with cat eye syndrome

Abstract

Introduction: Cat eye syndrome (CES) is a rare chromosomal disorder with highly variable clinical presentations involving multiple organs. The features mimic other syndromes such as CHARGE or VACTERL, and genetic testing is required to confirm the diagnosis. CES and malignancy were not reported until recently in a 3-year-old child. Case report: We report a case of CES with hepatoblastoma presenting in infancy, highlighting the need to be vigilant during the follow-up of these patients. Conclusion: Our case report has possibly identified an association of malignancy with CES in infancy. Further studies linking the association of malignancy with CES may highlight the need for careful monitoring, a high index of suspicion and a low threshold for an ultrasound scan and AFP to ensure timely diagnosis and treatment.