Epilepsy in Parry–Romberg syndrome and linear scleroderma en coup de sabre: Case series and systematic review including 140 patients

Abstract

Parry-Romberg syndrome (PRS) and linear sclerosis en coup de sabre (LScs) are rare, related, autoimmune conditions of focal atrophy and sclerosis of head and face which are associated with the development of focal epilepsy. The scarcity of PRS and LScs cases has made an evidence-based approach to optimal treatment of seizures difficult. Here we present a large systematic review of the literature evaluating 137 cases of PRS or LScs, as well as three new cases with epilepsy that span the spectrum of severity, treatments, and outcomes in these syndromes. Analysis showed that intracranial abnormalities and epileptic foci localized ipsilateral to the external (skin, eye, mouth) manifestations by imaging or EEG in 92% and 80% of cases, respectively. Epilepsy developed before external abnormalities in 19% of cases and after external disease onset in 66% of cases, with decreasing risk the further from the start of external symptoms. We found that over half of individuals affected may achieve seizure freedom with anti-seizure medications (ASMs) alone or in combination with immunomodulatory therapy (IMT), while a smaller number of individuals benefitted from epilepsy surgery. Although analysis of case reports has the risk of bias or omission, this is currently the best source of clinical information on epilepsy in PRS/LScs-spectrum disease. The paucity of higher quality information requires improved case identification and tracking. Toward this effort, all data have been deposited in a Synapse.org database for case collection with the potential for international collaboration.