title: The correlation between 1H-MR spectroscopy and clinical manifestation with tuberous sclerosis complex.
abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease. Cortical tubers are one of the standard intracranial hallmarks of TSC, they comprise subependymal hamartomas protruding into the ventricles, cortical and white matter hamartomas, and giant cell tumors. The clinical course of TSC varies from asymptomatic to severe, with epileptic seizures and psychomotor retardation. We discuss here the correlation between clinical manifestation and features on 1H-MR spectroscopy ( 1H-MRS) of the white matter involving cortical tubers in patients with TSC. Statistical analysis of the N-acetylaspartate (NAA), choline (Cho) and myoinositol (mI)/creatinine (Cr) ratios between tubers and normal controls showed decreased NAA/Cr and increased mI/Cr ratios (P<0.05) in tubers, but no significance difference in Cho/Cr. The significance of the clinical appearance is associated with a decreased ratio of NAA/Cr in tubers with TSC. An elevated ratio of mI/Cr in tuber does not parallel the severity of the clinical features of TSC. These findings suggest that 1H-MRS may be useful for the evaluation of the clinical severity and prognostic diagnosis of TSC.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Matsuo
authors.forename: A
authors.initials: A
authors.lastname: Imamura
authors.forename: R
authors.initials: R
authors.lastname: Ito
authors.forename: K
authors.initials: K
authors.lastname: Sugawara
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001923:Brain Chemistry / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D011522:Protons; D018709:Statistics, Nonparametric; D014402:Tuberous Sclerosis / Q000175:diagnosis*
chemical_list: D011522:Protons; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline