Neuroimaging Changes in Menkes Disease, Part 2.

AJNR. American Journal of Neuroradiology
R ManaraMenkes Working Group in the Italian Neuroimaging Network for Rare Diseases

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

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Citations

Aug 8, 2018·Topics in Magnetic Resonance Imaging : TMRI·Kshitij MankadAta Siddiqui
Aug 8, 2018·Topics in Magnetic Resonance Imaging : TMRI·Ai Peng TanEgloff Alexia
May 24, 2018·BMJ Case Reports·Pulkit Rangarh, Neera Kohli
Jul 21, 2020·Radiology·Kin Fen Kevin FungYee Ling Elaine Kan
Sep 14, 2019·Journal of Pediatric Neurosciences·Manjinder RandhawaNaveen Sankhyan
Aug 7, 2020·AJR. American Journal of Roentgenology·David DoigKshitij Mankad
Dec 19, 2020·Current Opinion in Pediatrics·Natasha ShurTanya Hinds
May 18, 2021·Pediatric Radiology·Jai SidpraKshitij Mankad
May 18, 2021·Pediatric Radiology·Natasha E ShurTanya S Hinds

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