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].