AOCCN2017

講演情報

Poster Presentation

[P1-1~141] Poster Presentation 1

2017年5月11日(木) 09:30 〜 16:00 Poster Room A (1F Navis A・B・C)

[P1-98] Dravet Syndrome: Illustration of Phenotypic Diversity from a Local Case Series of a Regional Hospital in Hong Kong

Kam Tim LIU (Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong)

Dravet syndrome is a known epileptic encephalopathy, a condition which is believed to contribute to progressive disturbance in cerebral function. It typically presents in the first year of life as seizures resistant to antiepileptic drugs. Developmental delay often becomes apparent in the second year of life. It is challenging to make early diagnosis and prognosis purely based on clinical manifestation. Genetic study is useful in clinically suspected cases. Consensus management algorithm helps to select cases for early genetic studies and alert physicians of treatment choices. We present a case series that illustrates the variable clinical courses of the syndrome.