Angelman syndrome: a case report

Abstract

We report a case of genetically confirmed Angelman syn - drome, de scribed in 1965 by Angelman. A 7-year-old girl was re ferred to the Pe di at ric Neu rol ogy Unit in March 2006 for con - sul ta tion about pos si ble treat ment with bot u li num toxin A for her ce re bral palsy. At the age of 6 years she had gen er al ized tonic clonic sei zures pro voked by high fe ver and con sid ered as fe brile ones. Her clin i cal ex am i na tion showed se vere men - tal re tar da tion with marked de lay in at tain ment of mo tor mile - stones, paroxysms of inappropriate laughter, blond hair, ocu - lar anom a lies, in clud ing de creased pig men ta tion of the choroid and the iris, the lat ter re sult ing in pale blue eyes, jerky arm move ments re sem bling a pup pet gait and hypermetro - pia – symp toms which clin i cally were char ac ter is tic to Angelman syn drome. Sleep EEG showed high am pli tude 2.5–3 Hz spike waves gen er al ized ac tiv ity, ep i sodic asym met - ric delta slow spike waves ac tiv ity in the right fron tal re gion. Anti epileptic drug treat ment was started. The pa tient was re - ferred for ge netic con sul ta tion with sus pi cion of Angelman syndrome. Cytogenetic-molec ular analysis revealed deletion of 15q 11 chro mo some which is typ i cal for Angelman’s syn - drome. Con clu sion: This case dem on strates the suc cess ful ap pli ca - tion of newly im ple mented cytogenetic mo lec u lar in ves ti ga - tion at Kaunas Uni ver sity Hos pi tal which helps to de tect pre vi - ously un known causes of neu ro log i cal dis or ders. [...].