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Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome
J Elliott Robinson1, Stephanie M Wolfe2, Kathleen Kaiser-Rogers3
1School of Medicine, University of North Carolina School of Medicine , Chapel Hill, NC , USA.
Abstract:
Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the patient's complex genetic background.
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