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Updated: May 4, 2026
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Delayed Diagnosis of Metastatic Ewing Sarcoma Masked by Charcot-Marie-Tooth Disease
Ines B Menjak1, Abha Gupta2, Michelle N Grinman3
1Department of Internal Medicine, University of Toronto , Toronto, Ontario, Canada .
Abstract:
An 18-year-old male with a history of Charcot-Marie-Tooth disease (CMT) presented with metastatic Ewing sarcoma to the lungs. He had been followed by several healthcare professionals who ascribed his enlarging 23 cm gluteal mass to his CMT. The patient experienced a significant delay in diagnosis, not uncommon in sarcoma. This case explores the various system and cognitive errors that contributed to this delay.
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