Costello syndrome: cognitive and proton magnetic resonance spectroscopy findings--a case report
Tommaso Perniola1, Franca Dicuonzo, Lucia Margari
1Department of Neurologic and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy.
Abstract:
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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