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 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.
Perniola
Tommaso
T
Department of Neurologic and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy.
Dicuonzo
Franca
F
Margari
Lucia
L
Presicci
Anna
A
Ventura
Patrizia
P
Palma
Michele
M
Carella
Aristide
A
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*
D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline