Purpose or Case Report:
Menkes disease is a rare X-linked recessive disorder of copper metabolism characterized by mutations in the ATP7A gene. It is a rapidly progressive, multisystem disorder that usually results in death in early childhood. Along with a distinctive clinical presentation, Menkes disease demonstrates various musculoskeletal and neurologic imaging findings. Some of these findings, such as subdural hemorrhage, are also highly correlated with cases of non-accidental trauma in the pediatric population and could lead a case of Menkes disease to be suspected as physical abuse on first glance. It is essential for pediatric diagnostic radiologists to be vigilant for findings suggestive of physical abuse in all imaging that they review, but important to recognize when these findings may be present as a part of a larger clinical picture. In this educational poster we will review the characteristic clinical presentation of Menkes disease, examine MRI and X-ray findings of Menkes disease that overlap with findings of pediatric non-accidental trauma, and review more specific radiologic findings frequently seen with Menkes disease.
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