多小脑回畸形、丘脑发育不全综合征以及伴有CSWS的癫痫

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

作者信息

Bartolini Emanuele, Falchi Melania, Zellini Francesco, Parrini Elena, Grisotto Laura, Cosottini Mirco, Posar Annio, Parmeggiani Antonia, Ambrosetto Giovanni, Ferrari Anna Rita, Santucci Margherita, Salas-Puig Javier, Barba Carmen, Guerrini Renzo

机构信息

From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.

出版信息

Neurology. 2016 Mar 29;86(13):1250-9. doi: 10.1212/WNL.0000000000002526. Epub 2016 Mar 4.

DOI:10.1212/WNL.0000000000002526

PMID:26944271

Abstract

OBJECTIVE

We explored the long-term follow-up of continuous spike-and-wave complexes during sleep (CSWS) in polymicrogyria and the anatomic volumetric variables that influence the risk of developing this age-related epileptic encephalopathy.

METHODS

We performed prospective follow-up of 27 patients with polymicrogyria/CSWS (mean follow-up 14.3 years; range 2-31 years) and comparative volumetric analysis of the polymicrogyric hemispheres and ipsilateral thalami vs 3 subgroups featuring polymicrogyria without CSWS, benign rolandic epilepsy (BRE), and headache. Receiver operator characteristic analysis of the power of volumetric values was determined to predict CSWS.

RESULTS

CSWS peaked between 5 and 7 years (mean age at onset 4.7 years). Remission occurred within 2 years from onset in 21%, within 4 years in 50%, and by age 13 years in 100%. We found smaller thalamic and hemispheric volumes in polymicrogyria/CSWS with respect to polymicrogyria without CSWS (p = 0.0021 for hemispheres; p = 0.0003 for thalami), BRE, and controls with headache (p < 0.0001). Volumes of the malformed hemispheres and ipsilateral thalami reliably identified the risk of incurring CSWS, with a 68-fold increased risk for values lower than optimal diagnostic cutoffs (436,150 mm(3) for malformed hemispheres or 4,616 mm(3) for ipsilateral thalami; sensitivity 92.54%; specificity 84.62%). The risk increased by 2% for every 1,000 mm(3) reduction of the polymicrogyric hemispheres and by 15% for every 100 mm(3) reduction of ipsilateral thalami.

CONCLUSIONS

The polymicrogyria/CSWS syndrome is likely caused by a cortico-thalamic malformation complex and is characterized by remission of epilepsy within early adolescence. Early assessment of hemispheric and thalamic volumes in children with polymicrogyria and epilepsy can reliably predict CSWS.

摘要

目的

我们探讨了多小脑回畸形患者睡眠期持续性棘慢复合波（CSWS）的长期随访情况，以及影响这种与年龄相关的癫痫性脑病发生风险的解剖学容积变量。

方法

我们对27例多小脑回畸形/CSWS患者进行了前瞻性随访（平均随访14.3年；范围2 - 31年），并对多小脑回畸形半球和同侧丘脑与3个亚组（分别为无CSWS的多小脑回畸形、良性罗兰多癫痫（BRE）和头痛患者）进行了对比容积分析。通过对容积值预测CSWS能力的受试者工作特征分析来确定诊断阈值。

结果

CSWS在5至7岁达到高峰（平均发病年龄4.7岁）。21%的患者在发病后2年内缓解，50%在4年内缓解，100%在13岁时缓解。我们发现，与无CSWS的多小脑回畸形、BRE以及头痛对照组相比，多小脑回畸形/CSWS患者的丘脑和半球容积更小（半球：p = 0.0021；丘脑：p = 0.0003）。畸形半球和同侧丘脑的容积能够可靠地识别发生CSWS的风险，容积低于最佳诊断阈值（畸形半球为436,150立方毫米，同侧丘脑为4,616立方毫米）时，风险增加68倍（敏感性92.54%；特异性84.62%）。畸形半球每减少1000立方毫米，风险增加2%；同侧丘脑每减少100立方毫米，风险增加15%。