Neuroimaging Changes in Menkes Disease, Part 2
| Autor: | Manara, R, Rocco, M C, D'Agata, L, Cusmai, R, Freri, E, Giordano, L, Darra, F, Procopio, E, Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Pinelli, L, Dionisi-Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, G, Zennara, F |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Child abuse
Male Pathology medicine.medical_specialty Neuroimaging Disease Pediatrics 030218 nuclear medicine & medical imaging 03 medical and health sciences 0302 clinical medicine gray matter changes X-linked disorder copper metabolism neurodegeneration basal ganglia lesions subdural collections Basal ganglia Medicine Humans Radiology Nuclear Medicine and imaging Gray Matter Child Menkes Kinky Hair Syndrome Retrospective Studies gray matter changes medicine.diagnostic_test business.industry neurodegeneration Brain Magnetic resonance imaging medicine.disease Magnetic Resonance Imaging basal ganglia lesions subdural collections X-linked disorder Menkes disease Neurology (clinical) copper metabolism Differential diagnosis business 030217 neurology & neurosurgery Rare disease |
| Zdroj: | AJNR Am J Neuroradiol |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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