West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? is an age-dependent epilepsy with onset peak in the first year of life. According to the ILAE classification, the etiology of WS could be symptomatic or cryptogenic. An idiopathic etiology was considered too. In literature, there was never previously described a transition from WS to JME. Methods: The proband, (male) was referred to our Department at the age of 8 months because he showed clusters of symmetric spasms. Interictal EEG recording displayed an hypsarrhythmic pattern. The clinical and EEG data suggested WS diagnosis. At 1 year of age increasing long and thick hair in both elbow regions was observed. This picture suggested an additional diagnosis of “Hairy Elbows Syndrome”. During follow-up, the neurological examination was normal and the EEGs showed age appropriate background activity without abnormalities until 12 years of age, when he experienced some clusters of bilateral, arrhythmic myoclonic jerks, synchronous with generalized discharges of 4Hz spike-wave. This features suggested JME diagnosis. Results: We report a child with WS with onset at 8 months of age followed by JME at 12 years of age. This unusual evolution, never reported previously, suggests that both seizure types may share some pathophysiological processes genetically determined, which produce a susceptibility to seizure. Conclusion: This case documents a new transition type from WS to JME and improves the knowledge about the spectrum of seizure susceptibility. These findings suggest that some genes other than those currently known and nonconventional genetic factors can play a role in seizure predisposition.