| Costello syndrome: cognitive and proton magnetic resonance spectroscopy findings--a case report. | |
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MedLine Citation:
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PMID: 17690078 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The authors describe a girl with Costello syndrome who showed cerebral palsy and neurosensorial deafness. Brain computer tomography and magnetic resonance findings were normal. Multivoxel proton magnetic resonance spectroscopy showed a lowering of the peak of choline with a reduced choline/creatine ratio at the level of the centrum semiovale. These findings might be due to a congenital dysmyelinating or hypomyelinating condition. A complete neuroimaging study can play a relevant role to better clarify the pathogenesis of brain involvement in Costello syndrome. |
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Authors:
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Tommaso Perniola; Franca Dicuonzo; Lucia Margari; Anna Presicci; Patrizia Ventura; Michele Palma; Aristide Carella |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of child neurology Volume: 22 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 2007 May |
Date Detail:
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Created Date: 2007-08-10 Completed Date: 2007-10-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: Canada |
Other Details:
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Languages: eng Pagination: 650-4 Citation Subset: IM |
Affiliation:
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Department of Neurologic and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aspartic Acid
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analogs & derivatives,
metabolism Child Choline / metabolism Cognition / physiology* Creatine / metabolism Female Humans Magnetic Resonance Spectroscopy* Neuropsychological Tests Temporomandibular Joint Dysfunction Syndrome / diagnosis*, physiopathology* |
| Chemical | |
Reg. No./Substance:
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56-84-8/Aspartic Acid; 57-00-1/Creatine; 62-49-7/Choline; 997-55-7/N-acetylaspartate |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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