Alberto Verrotti1, Debora Monacelli1, Miriam Castagnino1, Maria Pia Villa2, Pasquale Parisi3. 1. Department of Pediatrics, University of Perugia, Perugia, Italy. 2. Child Neurology, NESMOS Department, Chair of Pediatrics, Faculty of Medicine and Psychology, Sapienza University c/o Sant'Andrea Hospital, Via di Grottarossa, 1035-1039, 00189 Rome, Italy. 3. Child Neurology, NESMOS Department, Chair of Pediatrics, Faculty of Medicine and Psychology, Sapienza University c/o Sant'Andrea Hospital, Via di Grottarossa, 1035-1039, 00189 Rome, Italy. Electronic address: pasquale.parisi@uniroma1.it.
Abstract
PURPOSE: Ehlers-Danlos syndrome (EDS) comprises a variety of inherited connective tissue disorders that have been described in association with various neurological features. Until now the neurological symptoms have not been studied in detail; therefore, the aim of this review is to analyze the possible association between EDS, epilepsy and periventricular heterotopia (PH). METHODS: We have carried out a critical review of all cases of epilepsy in EDS patients with and without PH. RESULTS: Epilepsy is a frequent neurological manifestation of EDS; generally, it is characterized by focal seizures with temporo-parieto-occipital auras and the most common EEG findings epileptiform discharges and slow intermittent rhythm with delta-theta waves. Epilepsy in EDS patients is usually responsive to common antiepileptic therapy; very few cases of drug resistant focal epilepsy requested surgical treatment, with favorable results in terms of outcome. Epilepsy is the most common presenting neurological manifestation associated with PH in EDS patients. Abnormal anatomic circuitries (including heterotopic nodules) could generate epilepsy in patients with PH. CONCLUSION: Among the principal neurological manifestations, epilepsy and PH have a considerable importance and can influence the long-term evolution of these patients. We hypothesize that PH may determine the epileptic manifestations in patients with EDS; much remains to be learnt about the relationships between nodules and the epileptic manifestations in EDS syndrome.
PURPOSE:Ehlers-Danlos syndrome (EDS) comprises a variety of inherited connective tissue disorders that have been described in association with various neurological features. Until now the neurological symptoms have not been studied in detail; therefore, the aim of this review is to analyze the possible association between EDS, epilepsy and periventricular heterotopia (PH). METHODS: We have carried out a critical review of all cases of epilepsy in EDSpatients with and without PH. RESULTS:Epilepsy is a frequent neurological manifestation of EDS; generally, it is characterized by focal seizures with temporo-parieto-occipital auras and the most common EEG findings epileptiform discharges and slow intermittent rhythm with delta-theta waves. Epilepsy in EDSpatients is usually responsive to common antiepileptic therapy; very few cases of drug resistant focal epilepsy requested surgical treatment, with favorable results in terms of outcome. Epilepsy is the most common presenting neurological manifestation associated with PH in EDSpatients. Abnormal anatomic circuitries (including heterotopic nodules) could generate epilepsy in patients with PH. CONCLUSION: Among the principal neurological manifestations, epilepsy and PH have a considerable importance and can influence the long-term evolution of these patients. We hypothesize that PH may determine the epileptic manifestations in patients with EDS; much remains to be learnt about the relationships between nodules and the epileptic manifestations in EDS syndrome.
Authors: Salvatore Savasta; Alberto Verrotti; Maria Valentina Spartà; Thomas Foiadelli; Maria Pia Villa; Pasquale Parisi Journal: Epilepsy Behav Case Rep Date: 2015-06-14