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- W4385584508 abstract "Spontaneous periodic hypothermia (SPH) is an exceptionally rare condition characterised by paroxysmal episodes of spontaneous hypothermia. While commonly associated with Shapiro syndrome, which includes SPH, hyperhidrosis and agenesis of the corpus callosum, there are also cases of SPH that do not exhibit these defining characteristics, known as ‘Shapiro syndrome variant'. These variants may present with diverse brain imaging findings but no agenesis of the corpus callosum, suggesting different potential aetiologies. Notably, the association of SPH with epilepsy has only been reported in a few cases, and confirming epileptic activity in the context of SPH remains a challenge. In line with this, our report presents two exceptional cases of SPH without significant brain malformation, where we successfully confirmed the presence of epilepsy. The confirmation of epilepsy in these cases is particularly noteworthy, as it adds to the limited documentation of SPH cases with confirmed epilepsy. These findings contribute valuable insights into the association between SPH and epilepsy, enhancing our understanding of this rare condition. Our report also addresses the broader clinical presentations and the physiopathological mechanisms of SPH. By providing comprehensive insights into these aspects, we aim to advance the existing literature and improve our understanding of SPH and its association with epilepsy." @default.
- W4385584508 created "2023-08-05" @default.
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- W4385584508 date "2023-07-13" @default.
- W4385584508 modified "2023-09-25" @default.
- W4385584508 title "Spontaneous periodic hypothermia with confirmed epilepsy: a report of two cases" @default.
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- W4385584508 doi "https://doi.org/10.12890/2023_003960" @default.
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