Frontiers in Neurology (May 2016)

Stroke-like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome

  • J. Elliott eRobinson,
  • Stephanie M Wolfe,
  • Robert Samuel Greenwood,
  • Kathleen eKaiser-Rogers

DOI
https://doi.org/10.3389/fneur.2016.00067
Journal volume & issue
Vol. 7

Abstract

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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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