A Rare Pediatric Case of Li-Fraumeni Syndrome Presenting with Macropenis and Dual Primary Malignancies on MRI and 18F-FDG PET/CT

This case report describes a 19-month-old boy presenting with macropenis and increased stature, who was incidentally diagnosed with concurrent choroid plexus carcinoma in the right lateral ventricle and left adrenocortical carcinoma. Subsequent germline testing revealed a pathogenic TP53 mutations, confirming a diagnose of Li-Fraumeni syndrome(LFS). LFS with primary manifestations of macropenis and accelerated linear growth has rarely been documented in the medical literature. This case highlight the critical importance of implementing whole-body imaging modalities in pediatric patients with growth-developmental abnormalities, particularly those suggestive of Li-Fraumeni syndrome, to guide therapeutic decision-making and follow-up monitoring.