title: Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall.
abstract: Angelman syndrome is a rare genetic disorder scarcely diagnosed before the age of two years. We report the case of an eight-month-old female presenting with severe hypotonia, myoclonus, suspected spasms and an electroencephalogram with hypsarrhythmic-like features. She was initially treated with vigabatrin which resulted in worsening of myoclonic jerks. Fluorometric in situ hybridization revealed a chromosomal deletion at region 15q11-13. We discuss the case and differential diagnosis with other conditions including West syndrome. [Published with video sequences].
authors.affiliation: Department of Neonatology, CHU de Saint-Etienne, Saint Etienne, France. stephane.darteyre@chu-st-etienne.fr
authors.forename: Stephane
authors.initials: S
authors.lastname: Darteyre
authors.forename: Laure
authors.initials: L
authors.lastname: Mazzola
authors.forename: Philippe
authors.initials: P
authors.lastname: Convers
authors.forename: Marine
authors.initials: M
authors.lastname: Lebrun
authors.forename: Dorothée
authors.initials: D
authors.lastname: Ville
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000927:Anticonvulsants / Q000627:therapeutic use; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009123:Muscle Hypotonia / Q000150:complications; D013036:Spasms, Infantile / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D020888:Vigabatrin / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D020888:Vigabatrin