Proton magnetic resonance spectroscopy of the brain in three cases of Rett syndrome: comparison with autism and normal controls.
Rett syndrome (RS) is a clinically defined disorder characterized by autistic behavior, and cognitive and motor skill loss early in life. We performed 1H-MRS of the brain in 3 cases of RS in comparison with in autism and controls. The older patient with RS demonstrated decreased N-acetylaspartate (NAA)/choline (Cho) and NAA/creatine (Cr) ratios when compared with the autism and control groups, whereas the younger patients did not demonstrate these decreased metabolite ratios. The Cho/Cr ratio did not differ among Rett syndrome, autism and controls. Since the clinical stage did not differ among the 3 cases of RS, it was suggested that NAA was decreased with increasing age and was not related with the clinical stage of RS. The NAA/Cho, NAA/Cr and Cho/Cr ratios did not differ between autism and controls. The present data suggest that there may be a secondary degenerative process of late onset in RS, which pathophysiologically differs from autism.
Department of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, NCNP, University of Tokushima, Japan.
T
T
Hashimoto
N
N
Kawano
K
K
Fukuda
S
S
Endo
K
K
Mori
Y
Y
Yoneda
T
T
Yamaue
M
M
Harada
K
K
Miyoshi
D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001321:Autistic Disorder / Q000175:diagnosis* / Q000503:physiopathology; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D004734:Energy Metabolism / Q000502:physiology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D012016:Reference Values; D015518:Rett Syndrome / Q000175:diagnosis* / Q000503:physiopathology
D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline