RT Journal Article
SR Electronic
T1 Neuroimaging Changes in Menkes Disease, Part 2
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1858
OP 1865
DO 10.3174/ajnr.A5192
VO 38
IS 10
A1 Manara, R.
A1 Rocco, M.C.
A1 D'agata, L.
A1 Cusmai, R.
A1 Freri, E.
A1 Giordano, L.
A1 Darra, F.
A1 Procopio, E.
A1 Toldo, I.
A1 Peruzzi, C.
A1 Vittorini, R.
A1 Spalice, A.
A1 Fusco, C.
A1 Nosadini, M.
A1 Longo, D.
A1 Sartori, S.
A1 
YR 2017
UL http://www.ajnr.org/content/38/10/1858.abstract
AB 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.MDMenkes disease