The association of cortical dysplasia and anterior horn arthrogryposis: a case report.
We describe a 21-year-old woman with neurogenic congenital contractures (arthrogryposis) of the lower limbs, normal intelligence, hyper-reflexia and partial epilepsy. MRI revealed bilateral opercular (perisylvian) cortical dysplasia with infolding of cerebral cortex, a focal neuroblast migrational disorder. This type of migrational disorder is known to have a prenatal onset after the 20th fetal week, whereas the anterior horn cell degeneration responsible of neurogenic arthrogryposis originates at 12-14 weeks of gestation. A prenatal viral infection along the neural axis during both these gestational periods or a genetic defect could be responsible for both lesions in this case.
Hageman
G
G
Department of Neurology, Medical Spectrum Twente, Enschede, The Netherlands.
Hoogenraad
T U
TU
Prevo
R L
RL
D000328:Adult; D000818:Animals; D001176:Arthrogryposis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002540:Cerebral Cortex / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009133:Muscular Atrophy / Q000000981:diagnostic imaging; D009436:Neural Tube Defects / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D013848:Thigh; D014057:Tomography, X-Ray Computed