title: Severe respiratory dysrhythmia in Rett syndrome treated with topiramate.
abstract: Rett syndrome is a neurodevelopmental disorder that manifests itself early in childhood, progresses with the evolution of characteristic clinical signs and symptoms and is confirmed by mutation in the methyl-CpG-binding protein 2 gene. Seizures are present in a majority of Rett patients. Respiratory dysrhythmia in the awake state is present in two-thirds of patients, leading in some cases to severe nonepileptic paroxysmal events. There are no optimal treatment recommendations thus far. The aim of this case study is to present the electro-clinical correlation of severe respiratory dysrhythmia mimicking seizures in 2 Rett patients and effective treatment with topiramate.
authors.affiliation: Department of Child, Adolescent & Developmental Neurology, University Children's Hospital, Ljubljana, Slovenia natalija.krajnc@mf.uni-lj.si.
authors.forename: Natalija
authors.initials: N
authors.lastname: Krajnc
mesh_terms: D000293:Adolescent; D001921:Brain / Q000503:physiopathology; D002317:Cardiovascular Agents / Q000627:therapeutic use*; D002648:Child; D004569:Electroencephalography; D005260:Female; D005500:Follow-Up Studies; D005632:Fructose / Q000031:analogs & derivatives* / Q000627:therapeutic use; D006801:Humans; D012120:Respiration Disorders / Q000150:complications* / Q000188:drug therapy*; D015518:Rett Syndrome / Q000150:complications*; D000077236:Topiramate
chemical_list: D002317:Cardiovascular Agents; D000077236:Topiramate; D005632:Fructose
keywords: Rett syndrome; respiratory dysrhythmia; topiramate; treatment