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.
Keywords
Shapiro syndrome - hyperhidrosis - hypothermia - hypersomnia - oxcarbazepine
