Neuroimaging changes in menkes disease, part 2,menkes working group in the Italian neuroimaging network for rare diseases

R. Manara, M. C. Rocco, L. D'agata, R. Cusmai, E. Freri, L. Giordano, F. Darra, E. Procopio, I. Toldo, C. Peruzzi, R. Vittorini, A. Spalice, C. Fusco, M. Nosadini, D. Longo, S. Sartori

Research output: Contribution to journalReview article

Abstract

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 ofMRimaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.

Original languageEnglish
Pages (from-to)1858-1865
Number of pages8
JournalAmerican Journal of Neuroradiology
Volume38
Issue number10
DOIs
Publication statusPublished - Oct 1 2017

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

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    Manara, R., Rocco, M. C., D'agata, L., Cusmai, R., Freri, E., Giordano, L., Darra, F., Procopio, E., Toldo, I., Peruzzi, C., Vittorini, R., Spalice, A., Fusco, C., Nosadini, M., Longo, D., & Sartori, S. (2017). Neuroimaging changes in menkes disease, part 2,menkes working group in the Italian neuroimaging network for rare diseases. American Journal of Neuroradiology, 38(10), 1858-1865. https://doi.org/10.3174/ajnr.A5192