aDepartment of Neurology, Medical Spectrum Twente, Enschede ,The Netherlands
bDepartment of Radiology, Medical Spectrum Twente, Enschede ,The Netherlands
cDepartment of Neurology, University Hospital Utrecht, Utrecht ,The Netherlands
Abstract:
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.