Neuroimaging Changes in Menkes Disease, Part 2

Abstract
SUMMARY: 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.
Abbreviation
- MD
- Menkes disease
Footnotes
Renzo Manara and Maria Chiara Rocco contributed equally to the study and should be considered “first coauthors.”
Daniela Longo and Stefano Sartori should be both considered “senior coauthors.”
- © 2017 American Society of Neuroradiology
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