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Journal of Child Neurology
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Costello Syndrome: Cognitive and Proton Magnetic Resonance Spectroscopy Findings—A Case Report

Tommaso Perniola, MD

Department of Neurologic and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy

Franca Dicuonzo, MD

Department of Neurologic and Psychiatry Sciences, Neuroradiologic Service University of Bari, Italy

Lucia Margari, MD

Department of Neurologic and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy, l.margari@neurol .uniba.it

Anna Presicci, MD

Department of Neurologic and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy

Patrizia Ventura, MD

Department of Neurologic and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy

Michele Palma, MD

Department of Neurologic and Psychiatry Sciences, Neuroradiologic Service University of Bari, Italy

Aristide Carella, MD

Department of Neurologic and Psychiatry Sciences, Neuroradiologic Service University of Bari, Italy

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.

Key Words: Costello syndrome • proton magnetic resonance • choline

Journal of Child Neurology, Vol. 22, No. 5, 650-654 (2007)
DOI: 10.1177/0883073807302615


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