Neuroimaging Changes in Menkes Disease, Part 2

AJNR Am J Neuroradiol. 2017 Oct;38(10):1858-1865. doi: 10.3174/ajnr.A5192. Epub 2017 May 11.


This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.

Publication types

  • Review

MeSH terms

  • Brain / diagnostic imaging*
  • Brain / pathology*
  • Child
  • Gray Matter / diagnostic imaging
  • Gray Matter / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Menkes Kinky Hair Syndrome / diagnostic imaging*
  • Menkes Kinky Hair Syndrome / pathology*
  • Neuroimaging*
  • Retrospective Studies