West syndrome followed by juvenilemyoclonic epilepsy: a coincidentaloccurrence?

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West syndrome followed by juvenilemyoclonic epilepsy: a coincidentaloccurrence? is an age-dependent epilepsy with onset peak in the firstyear of life. According to the ILAE classification, theetiology of WS could be symptomatic or cryptogenic. Anidiopathic etiology was considered too. In literature, therewas never previously described a transition from WS toJME.Methods: The proband, (male) was referred to ourDepartment at the age of 8 months because he showedclusters of symmetric spasms. Interictal EEG recordingdisplayed an hypsarrhythmic pattern. The clinical and EEGdata suggested WS diagnosis. At 1 year of age increasinglong and thick hair in both elbow regions was observed.This picture suggested an additional diagnosis of “HairyElbows Syndrome”. During follow-up, the neurologicalexamination was normal and the EEGs showed ageappropriate background activity without abnormalities until12 years of age, when he experienced some clusters ofbilateral, arrhythmic myoclonic jerks, synchronous withgeneralized discharges of 4Hz spike-wave. This featuressuggested JME diagnosis.Results: We report a child with WS with onset at 8 monthsof age followed by JME at 12 years of age. This unusualevolution, never reported previously, suggests that bothseizure types may share some pathophysiological processesgenetically determined, which produce a susceptibility toseizure.Conclusion: This case documents a new transition typefrom WS to JME and improves the knowledge about thespectrum of seizure susceptibility. These findings suggestthat some genes other than those currently known and nonconventionalgenetic factors can play a role in seizurepredisposition.
Lingua originaleEnglish
Numero di pagine1
Stato di pubblicazionePublished - 2012


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