A rare pediatric case of Li-Fraumeni syndrome presenting with virilization symptoms and dual primary malignancies on magnetic resonance imaging and [18F]-fluorodeoxyglucose positron emission tomography/computed tomography.
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Abstract
This case report describes a 19-month-old boy presenting with macropenis, increased stature, and deep voice, who was diagnosed with concurrent choroid plexus carcinoma in the right lateral ventricle and left adrenocortical carcinoma. Subsequent germline testing revealed pathogenic TP53 mutations, confirming a diagnosis of Li-Fraumeni syndrome. Li-Fraumeni syndrome with primary manifestations of macropenis and accelerated linear growth has rarely been documented in the medical literature. This case highlights 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.
期刊介绍：
Official Journal of the European Society of Pediatric Radiology, the Society for Pediatric Radiology and the Asian and Oceanic Society for Pediatric Radiology
Pediatric Radiology informs its readers of new findings and progress in all areas of pediatric imaging and in related fields. This is achieved by a blend of original papers, complemented by reviews that set out the present state of knowledge in a particular area of the specialty or summarize specific topics in which discussion has led to clear conclusions. Advances in technology, methodology, apparatus and auxiliary equipment are presented, and modifications of standard techniques are described.
Manuscripts submitted for publication must contain a statement to the effect that all human studies have been reviewed by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in an appropriate version of the 1964 Declaration of Helsinki. It should also be stated clearly in the text that all persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects under study should be omitted.
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