Neuroimaging Changes in Menkes Disease, Part 2.

R Manara, M C Rocco, L D'agata, R Cusmai, E Freri, L Giordano, F Darra, E Procopio, I Toldo, C Peruzzi, R Vittorini, A Spalice, C Fusco, M Nosadini, D Longo, S Sartori

Journal: AJNR. American journal of neuroradiology 2018;38(10):1858-1865

PMID: 28495940

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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.

Address: From the Neuroradiology (R.M., M.C.R.), Sezione di Neuroscienze, Medicine and Surgery Department, University of Salerno, Salerno, Italy [email protected].; From the Neuroradiology (R.M., M.C.R.), Sezione di Neuroscienze, Medicine and Surgery Department, University of Salerno, Salerno, Italy.; Department of Neuroscience (L.D.), University of Padova, Padova, Italy.; Neurology Unit (R.C., D.L.), Bambino Gesù Children's Hospital IRCCS, Roma, Italy.; Department of Pediatric Neuroscience (E.F.), Foundation IRCCS, Neurological Institute "C. Besta," Milano, Italy.; Child Neuropsychiatry Unit (L.G.), "Spedali Civili," Brescia, Italy.; Child Neuropsychiatry Unit (F.D.), Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.; Metabolic and Neuromuscular Unit (E.P.), Department of Neuroscience, Meyer Children Hospital, Firenze, Italy.; Pediatric Neurology and Neurophysiology Unit (I.T., M.N., S.S.), Department of Woman and Child Health, University Hospital of Padova, Padova, Italy.; Child Neuropsychiatry (C.P.), Ospedale Maggiore, Novara, Italy.; Child Neurology and Psychiatry (R.V.), Department of Pediatrics and Pediatric Specialties, AOU Città della Salute e della Scienza, Torino, Italy.; Children Neurology Division (A.S.), University La Sapienza Roma, Roma, Italy.; Child Neurology and Psychiatry Unit, (C.F.), Department of Pediatrics, ASMN-IRCCS, Reggio Emilia, Italy.

DOI: 10.3174/ajnr.A5192

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MeSH Terms: Brain, Child, Gray Matter, Humans, Magnetic Resonance Imaging, Male, Menkes Kinky Hair Syndrome, Neuroimaging, Retrospective Studies