title: [The Angelman or "happy puppet" syndrome].
abstract: A case of Angelman's or "happy puppet" syndrome is described and detailed analysed, first time in our country. The literature is reviewed. The diagnostic criteria are presented. Evoked potential study and more than two years long EEG follow-up results are discussed. The unusual clinical feature of the described case is that epilepsy presented itself very early, in age of two weeks, by infantile spasms. It changed later to focal secunder generalised epilepsy. The EEG has been always abnormal during the follow-up, and the pattern has been changing by the age of the patient. On the other hand, the evoked potentials were all normals (BAEPs, VEP, SSEP CCT) "O"n the basis of the electrophysiological dichotomy the authors suggest a predominantly gray matter's disorder in Angelman's syndrome. They emphasize, that Angelman's syndrome has to be keep in evidence in the differential diagnosis of early infantile epilepsies. In the presented case the familial accumulation of movement's dyscoordinations, the dysmorphic features and subnormal intelligence of the brother support the possibility of the role of an autosomal recessive gene with different penetrance in the pathogenesis of Angelman's syndrome.
authors.affiliation: Semmelweis Orvostudományi Egyetem, Budapest, II. sz. Gyermekklinika.
authors.forename: R
authors.initials: R
authors.lastname: Kálmánchey
authors.forename: A
authors.initials: A
authors.lastname: Halász
mesh_terms: D001259:Ataxia / Q000150:complications / Q000235:genetics; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005071:Evoked Potentials; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D009069:Movement Disorders / Q000150:complications / Q000235:genetics; D011597:Psychomotor Performance; D013036:Spasms, Infantile / Q000150:complications / Q000235:genetics*; D013577:Syndrome
vernacular_title: Az Angelman vagy "happy puppet" syndromáról.