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- W3193892935 abstract "Abstract Shapiro syndrome (SS) is a rare disorder characterized by a triad of spontaneous periodic hypothermia, hyperhidrosis, and corpus callosum agenesis (CCA). Less than 80 cases have been reported so far. Its etiology and pathophysiology, however, are still unclear. In his original publication, Shapiro et al attributed these signs to dysregulation of encephalic pathways secondary to CCA. Nevertheless, since the syndrome was originally described, 19 patients have been reported with an intact corpus callosum, considering it a variant of the condition. In this article, we report the clinical outcome of a 20-month-old girl with SS without evidence of CCA, presenting an atypical onset in which sleep abnormalities were the most prominent complaints, with the classical episodic manifestations appearing afterward; the patient exhibited an optimal response to management with oxcarbazepine. To our understanding, this is fourth-youngest case ever reported of this SS variant, and the first to present sleep disturbances as the most prominent complaint." @default.
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- W3193892935 date "2021-08-17" @default.
- W3193892935 modified "2023-10-01" @default.
- W3193892935 title "Atypical Case of Early-Onset Shapiro Syndrome: Diagnostic Approach and Therapeutic Challenges" @default.
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- W3193892935 doi "https://doi.org/10.1055/s-0041-1733935" @default.
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