Angelman syndrome and pseudo‐hypsarrhythmia: a diagnostic pitfall
Copyright policy )Angelman syndrome and pseudo‐hypsarrhythmia: a diagnostic pitfall
ABSTRACTAngelman 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]
Chromosomes, Human, Pair 15, Infant, Vigabatrin, Diagnosis, Differential, Humans, Muscle Hypotonia, Anticonvulsants, Female, Angelman Syndrome, Chromosome Deletion, Diagnostic Errors, Spasms, Infantile, In Situ Hybridization, Fluorescence
Chromosomes, Human, Pair 15, Infant, Vigabatrin, Diagnosis, Differential, Humans, Muscle Hypotonia, Anticonvulsants, Female, Angelman Syndrome, Chromosome Deletion, Diagnostic Errors, Spasms, Infantile, In Situ Hybridization, Fluorescence
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