Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers –Danlos syndrome

Conclusion To our knowledge, this is the first report of unilateral periventricular heterotopia associated with Ehlers–Danlos syndrome. We first hypothesized a mosaicism as the cause of both, a unilateral localization of the heterotopias and a favorable long-term course with good response to anticonvulsant therapy; however, intriguingly, we could not demonstrate a mosaicism as the genetic condition in our patient and the neuroradiological findings and the favorable clinical outcome still remain unexplained.
Source: Epilepsy and Behavior Case Reports - Category: Neurology Source Type: research