Imaging findings of Menkes disease, a radiographic mimic of abusive trauma

Oyindamola N. Akinseye, Rana Yazdani, Kelly A. Tornow, Kristen N. Reeder, Rebekah Leigh Clarke, Cory Pfeifer

Research output: Contribution to journalArticle

Abstract

Menkes disease is a rare X-linked recessive disorder caused by impaired copper absorption and transport. Presented here is a case of a 12-week-old male who presented with hypotonia and multiple metaphyseal fractures. Further imaging and workup revealed a diagnosis of Menkes disease. While nonaccidental trauma is a much more common cause of metaphyseal bone fractures, encephalopathy, and subdural hematomas in infants, Menkes syndrome should be considered in the setting of corroborating signs and symptoms, as early diagnosis and treatment can delay progression of the disease.

Original languageEnglish (US)
Pages (from-to)993-996
Number of pages4
JournalRadiology Case Reports
Volume14
Issue number8
DOIs
StatePublished - Aug 1 2019

Keywords

  • Abusive head trauma
  • Menkes syndrome

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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