Costello Syndrome: Cognitive and Proton Magnetic Resonance Spectroscopy Findings—A Case Report

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...

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Bibliographic Details
Published in:Journal of child neurology 2007-05, Vol.22 (5), p.650-654
Main Authors: Perniola, Tommaso, Dicuonzo, Franca, Margari, Lucia, Presicci, Anna, Ventura, Patrizia, Palma, Michele, Carella, Aristide
Format: Article
Language:English
Subjects:
Aspartic Acid - analogs & derivatives
Aspartic Acid - metabolism
Child
Choline - metabolism
Cognition - physiology
Creatine - metabolism
Female
Humans
Magnetic Resonance Spectroscopy
Neuropsychological Tests
Temporomandibular Joint Dysfunction Syndrome - diagnosis
Temporomandibular Joint Dysfunction Syndrome - physiopathology
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Summary: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.
ISSN:0883-0738
1708-8283
DOI:10.1177/0883073807302615