RT Journal Article
SR Electronic
T1 Neuroimaging Changes in Menkes Disease, Part 1
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
DO 10.3174/ajnr.A5186
A1 R. Manara
A1 L. D'Agata
A1 M.C. Rocco
A1 R. Cusmai
A1 E. Freri
A1 L. Pinelli
A1 F. Darra
A1 E. Procopio
A1 R. Mardari
A1 C. Zanus
A1 G. Di Rosa
A1 C. Soddu
A1 M. Severino
A1 M. Ermani
A1 D. Longo
A1 S. Sartori
YR 2017
UL http://www.ajnr.org/content/early/2017/05/11/ajnr.A5186.abstract
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