title: Trihexyphenidyl for acute life-threatening episodes due to a dystonic movement disorder in Rett syndrome.
abstract: In Rett syndrome (RS), acute life-threatening episodes (ALTEs) are usually attributed to epilepsy or autonomic dysfunction but they can represent a movement disorder (MD). We describe three girls with RS who experienced ALTEs from an early age. These were long considered epileptic until video-EEG in Patients 1 and 3 revealed their non-epileptic nature. A primary dystonic mechanism was suspected and Patients 1 and 2 were treated with Trihexyphenidyl with significantly reduced frequency of the ALTEs. Patient 3 died before Trihexyphenidyl was tried. Trihexyphenidyl in RS patients with similar presentations can modify the dystonia and prevent ALTEs.
authors.affiliation: Department of Paediatric Neurology, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK. adgika@doctors.org.uk
authors.forename: Artemis D
authors.initials: AD
authors.lastname: Gika
authors.forename: Elaine
authors.initials: E
authors.lastname: Hughes
authors.forename: Sushma
authors.initials: S
authors.lastname: Goyal
authors.forename: Matthew
authors.initials: M
authors.lastname: Sparkes
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Lin
mesh_terms: D000293:Adolescent; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D002648:Child; D020821:Dystonic Disorders / Q000188:drug therapy* / Q000209:etiology*; D004562:Electrocardiography / Q000379:methods; D004569:Electroencephalography / Q000379:methods; D004576:Electromyography / Q000379:methods; D005260:Female; D006801:Humans; D015518:Rett Syndrome / Q000150:complications*; D014282:Trihexyphenidyl / Q000627:therapeutic use*; D014741:Video Recording / Q000379:methods; D055815:Young Adult
chemical_list: D000978:Antiparkinson Agents; D014282:Trihexyphenidyl