title: Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome.
abstract: OBJECTIVE
  Ehlers-Danlos syndrome (EDS), comprising a variety of inherited connective tissue disorders, has already been described in association with various neurological features, particularly with epilepsy and periventricular heterotopia (PH). Until now, there are reports of only bilateral periventricular heterotopia associated with Ehlers-Danlos syndrome.
  
  
  RESULTS
  Here we describe a 1-year, 4-month-old female who came under our care in the Pediatric Emergency Room because of prolonged afebrile generalized seizures, whose clinical picture allowed us to suspect a diagnosis of Ehlers-Danlos syndrome. Neuroradiological investigations showed unilateral periventricular heterotopias, and genetic analyses confirmed the hypothesized diagnosis, identifying in particular a mutation in the COL5A1 gene. After starting anticonvulsant therapy, her seizures showed a good response with seizure control and she had a favorable long-term course.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Pavia University, Pavia, Italy ; IRCCS San Matteo, Pavia, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Savasta
authors.affiliation: Department of Pediatrics, Perugia University, Perugia, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.affiliation: Department of Pediatrics, Pavia University, Pavia, Italy ; IRCCS San Matteo, Pavia, Italy.
authors.forename: Maria Valentina
authors.initials: MV
authors.lastname: Spartà
authors.affiliation: Department of Pediatrics, Pavia University, Pavia, Italy ; IRCCS San Matteo, Pavia, Italy.
authors.forename: Thomas
authors.initials: T
authors.lastname: Foiadelli
authors.affiliation: NESMOS Department, Child Neurology, Chair of Pediatrics, Faculty of Medicine & Psychology, Sant'Andrea Hospital, "Sapienza University", Rome, Italy.
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Villa
authors.affiliation: NESMOS Department, Child Neurology, Chair of Pediatrics, Faculty of Medicine & Psychology, Sant'Andrea Hospital, "Sapienza University", Rome, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Parisi
keywords: COL5A1 gene mutation; Ehlers–Danlos syndrome; Epilepsy; Neuronal migration disorders; Unilateral periventricular heterotopia