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1q43q44缺失综合征患者热性惊厥后出现类似中风的表现。

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

作者信息

Robinson J Elliott, Wolfe Stephanie M, Kaiser-Rogers Kathleen, Greenwood Robert S

机构信息

School of Medicine, University of North Carolina School of Medicine , Chapel Hill, NC , USA.

School of Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA; Division of Child Neurology, Department of Neurology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.

出版信息

Front Neurol. 2016 May 4;7:67. doi: 10.3389/fneur.2016.00067. eCollection 2016.

DOI:10.3389/fneur.2016.00067
PMID:27199890
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4854866/
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.

摘要

偏瘫-癫痫综合征（HHE）是长时间偏瘫后的罕见结果，随后会出现弥漫性单侧半球水肿、偏瘫，最终受影响半球出现半侧萎缩和癫痫。在此，我们描述了一名3岁男性病例，其发生1;3易位导致1q43q44末端缺失和3p26.1p26.3末端重复，在长时间高热惊厥后发展为HHE，并在患者复杂的遗传背景下讨论了HHE的发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ef9/4854866/4a82a3505be5/fneur-07-00067-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ef9/4854866/b5acb14e880f/fneur-07-00067-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ef9/4854866/4a82a3505be5/fneur-07-00067-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ef9/4854866/b5acb14e880f/fneur-07-00067-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ef9/4854866/4a82a3505be5/fneur-07-00067-g002.jpg

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Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association.伴有1q44微缺失的偏侧惊厥-偏瘫-癫痫综合征：因果关系还是偶然关联。
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A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
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