PT - JOURNAL ARTICLE AU - R. Manara AU - L. D'Agata AU - M.C. Rocco AU - R. Cusmai AU - E. Freri AU - L. Pinelli AU - F. Darra AU - E. Procopio AU - R. Mardari AU - C. Zanus AU - G. Di Rosa AU - C. Soddu AU - M. Severino AU - M. Ermani AU - D. Longo AU - S. Sartori TI - Neuroimaging Changes in Menkes Disease, Part 1 AID - 10.3174/ajnr.A5186 DP - 2017 May 11 TA - American Journal of Neuroradiology 4099 - http://www.ajnr.org/content/early/2017/05/11/ajnr.A5186.short 4100 - http://www.ajnr.org/content/early/2017/05/11/ajnr.A5186.full AB - SUMMARY: Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.AbbreviationMDMenkes disease