A case of Noonan syndrome with cortical dysplasia.
We report the case of a 20-year-old woman with Noonan syndrome. She had severe mental retardation and intractable epilepsy. Magnetic resonance imaging revealed dilated perivascular spaces and a dysplastic lesion in the left temporal lobe, which is thought to have caused her neurologic symptoms. These findings suggest that neuronal in addition to somatic migration can be impaired in Noonan syndrome.
Saito
Y
Y
Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Sasaki
M
M
Hanaoka
S
S
Sugai
K
K
Hashimoto
T
T
D000328:Adult; D002540:Cerebral Cortex / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009634:Noonan Syndrome / Q000473:pathology*