title: Costello syndrome: cognitive and proton magnetic resonance spectroscopy findings--a case report.
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.
authors: Department of Neurologic and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy.
authors: Tommaso
authors: T
authors: Perniola
authors: Franca
authors: F
authors: Dicuonzo
authors: Lucia
authors: L
authors: Margari
authors: Anna
authors: A
authors: Presicci
authors: Patrizia
authors: P
authors: Ventura
authors: Michele
authors: M
authors: Palma
authors: Aristide
authors: A
authors: Carella
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D002648:Child; D002794:Choline / Q000378:metabolism; D003071:Cognition / Q000502:physiology*; D003401:Creatine / Q000378:metabolism; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D009483:Neuropsychological Tests; D013706:Temporomandibular Joint Dysfunction Syndrome / Q000175:diagnosis* / Q000503:physiopathology*
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline