[A case of CADASIL in early stage].
We report a 26-year-old woman who showed recurrent migrainous attacks and convulsions since her childhood. Neurological examination revealed no focal abnormality except mental retardation (MR). T2-and fluid-attenuated inversion-recovery (FLAIR)-weighted brain MRI revealed apparent high intensities in the deep subcotical white matter. Ultrastructual studies revealed an abnormal deposition of granular osmiophilic materials (GOM) on the surface of vascular smooth muscle cells in dermis. Her mother developed recurrent strokes without risk factor since age 41. A heterozygosis Arg133Cys mutation of Notch 3 gene has already presented in patient and her mother. This case might be an early stage in CADASIL before stroke onset and suggested that systemic vasculopathy was presented in this stage. The correlation between MR and phenotype of CADASIL were unclear.
Kotorii
S
S
Department of Neurology, Iizuka Hospital.
Sakae
N
N
Yamada
N
N
Yamanaka
H
H
Fujii
N
N
Nakashima
Y
Y
D000328:Adult; D001921:Brain / Q000473:pathology; D015161:Dementia, Multi-Infarct / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface
D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface