Neuroimaging Changes in Menkes Disease, Part 1.

R Manara, L D'Agata, M C Rocco, R Cusmai, E Freri, L Pinelli, F Darra, E Procopio, R Mardari, C Zanus, G Di Rosa, C Soddu, M Severino, M Ermani, D Longo, S Sartori

Journal: AJNR. American journal of neuroradiology 2018;38(10):1850-1857

PMID: 28495946

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Abstract

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.

Address: From the Neuroradiology (R. Manara, M.C.R.), Sezione di Neuroscienze, Medicine and Surgery Department, University of Salerno, Salerno, Italy [email protected].; Department of Neuroscience (L.D.), University of Padova, Padova, Italy.; From the Neuroradiology (R. Manara, M.C.R.), Sezione di Neuroscienze, Medicine and Surgery Department, University of Salerno, Salerno, Italy.; Neurology Unit (R.C., D.L.), Department of Imaging, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.; Department of Pediatric Neuroscience (E.F.), Foundation I.R.C.C.S., Neurological Institute "C. Besta," Milano, Italy.; Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Department of Diagnostic Imaging ASST 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.; Department of Neuroscience (R. Mardari, M.E.).; Institute for Maternal and Child Health (C.Z.), IRCCS "Burlo Garofolo," Trieste, Italy.; Unit of Child Neurology and Psychiatry (G.D.R.), Department of Human Pathology of the Adult and Developmental Age, University Hospital of Messina, Messina, Italy.; Ospedale Pediatrico Microcitemico "A. Cao" (C.S.), AOB Cagliari, Italy.; Neuroradiology Unit (M.S.), Istituto Giannina Gaslini, Genova, Italy.; Pediatric Neurology and Neurophysiology Unit, Department of Woman and Child Health (S.S.), University Hospital of Padova, Padova, Italy.

DOI: 10.3174/ajnr.A5186

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MeSH Terms: Brain, Disease Progression, Female, Humans, Magnetic Resonance Imaging, Male, Menkes Kinky Hair Syndrome, Neuroimaging, Retrospective Studies, White Matter