Dravet Syndrome Case Studies

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Although Dravet Syndrome is associated with wide variation in semiology, a core set of clinical features is seen in the majority of affected individuals.4The spectrum of clinical manifestations is depicted in Figure 3. Dr. Dravet defined three consecutive stages encompassing the course of the syndrome.4,5 Seizures typically begin within the first year of life, between 5 and 8 months of age in most cases, in children who were previously developing normally and without any pertinent neurological history.5,8 The seizures associated with the syndrome are most often fever-induced, generalized, clonic (commonly alternating hemiclonic seizures), unilateral or focal, prolonged (lasting at least 20 minutes), with a fraction of them developing into status epilepticus (SE).4,5,8,14 The frequency of seizure episodes is moderate at onset. This is followed by progression to repeat seizures, often presenting as diverse seizure types, which may or may not be accompanied by fever. In a few patients, focal myoclonic jerks may present before the onset of convulsive seizures. These features constitute the first “febrile stage” in the course of the syndrome.4,5,8,14 Many other triggers are now known including mild illness, hot baths, external temperature fluctuations and photosensitivity. Other triggers that may elicit seizures include exercise and emotional stress (e.g. …show more content…

when the child is reprimanded by a parent).4,8 In recent years, many cases diagnosed as post-vaccination encephalopathy (about 2.5%) have been found to carry SCN1A mutations, especially in association with pertussis vaccination.5,8 In this stage, the electroencephalogram (EEG) does not display spikes and theta activity may appear after the first

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