TY - JOUR T1 - Neuroimaging Changes in Menkes Disease, Part 2 JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. DO - 10.3174/ajnr.A5192 AU - R. Manara AU - M.C. Rocco AU - L. D'agata AU - R. Cusmai AU - E. Freri AU - L. Giordano AU - F. Dara AU - E. Procopio AU - I. Toldo AU - C. Peruzzi AU - R. Vittorini AU - A. Spalice AU - C. Fusco AU - M. Nosadini AU - D. Longo AU - S. Sartori Y1 - 2017/05/11 UR - http://www.ajnr.org/content/early/2017/05/11/ajnr.A5192.abstract N2 - 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.AbbreviationMDMenkes disease ER -