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DOI: 10.1055/s-0031-1279725
© Georg Thieme Verlag KG Stuttgart · New York
Acute Encephalopathy in a Patient with Dravet Syndrome
Publication History
received 05.12.2010
accepted 05.05.2011
Publication Date:
06 June 2011 (online)

Abstract
Dravet syndrome (severe myoclonic epilepsy in infancy) is an epileptic syndrome with various types of seizures that begin in the first year of life and may result in intellectual impairment. Mutations of the SCN1A gene are the most prevalent genetic cause of Dravet syndrome. In this study, we report a 12-year-old girl with Dravet syndrome carrying an SCN1A mutation, c.2785Cdel (L929del fsX934). She had an episode of status epilepticus and persistent lethargy after 48 h of acute febrile illness that was preceded by an annual flu vaccination. Low voltage activities detected by electroencephalogram and elevated neuron-specific enolase/interleukin-6 concentrations in the cerebrospinal fluid suggested acute encephalopathy. MRI showed abnormalities in the bilateral thalami, cerebellum and brainstem. These abnormalities were protracted over a month. The biochemical and MRI characteristics of this case are different from any known type of encephalopathy, and may suggest a vulnerability of neurons expressing mutant SCN1A in the brain.
Key words
Dravet syndrome - acute encephalopathy - SCN1A - voltage-dependent sodium channel - vaccination
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Correspondence
Hitoshi Osaka
Division of Neurology
Kanagawa Children's Medical
Center
2-138-4 Mutsukawa
Minami-ku
Yokohama
Kanagawa 232-8555
Japan
Phone: +81/45/711 2351
Fax: +81/45/721 3324
Email: hosaka@kcmc.jp