Department of Neonatology, Department of Paediatric Neurophysiology, Department of Genetics, CHU de Saint-Etienne, Saint-Etienne, Department of Paediatric Neurology, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France
- Key words: Angelman syndrome, myoclonus, hypsarrhythmia, West syndrome, AEDs aggravation
- DOI : 10.1684/epd.2011.0446
- Page(s) : 331-5
- Published in: 2011
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.
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