案例演示在这里,我们报告了一个10岁的意大利男性的案例,具有常规的出生病史,自闭症谱系障碍以及正常智力和语言(阿斯伯格综合征)。在母亲(母亲,祖母,叔叔)中报道了偏头痛的熟悉程度,与母亲的感觉光环偶然相关。由于额叶,脉动,严重的头痛,与腹痛相关,敏锐地唤醒了夜间觉醒,迅速发生失语症,反复呕吐和轻度发烧。然后,他被送往儿科紧急病房进行进一步侵犯。非增强的大脑计算机断层扫描,磁共振成像(MRI)和眼科评估是不明显的。脑脊液(CSF)分析表明,蛋白质增加(312 mg/dL,参考15至45)和多克隆IgG(15.6 mg/dl,参考0至4.5),受损的血液-CSF屏障障碍性渗透率不良(5.10,5.10,参考<4.9),较小的单元格总计glucose(505 milty for Glucose and nounder and nounder and nounters and Cirtion and Cirtion and dl nounters and dl and dl and dl dl and dl dl and dl。显微镜,文化和病毒学检查是不可传染的。他在7天内逐渐康复,然后出院。在接下来的6个月中,他每月介绍自我限制的偏头痛,偶尔与混乱,右侧异常和言语障碍有关。然后,第二个主要发作发生,与呕吐,发烧,脑病,中央VII右颅神经瘫痪,失语症和右侧偏瘫有关,并减少了深腹膜。新的CSF分析基本上与前面的分析相似。1)。2)。大脑计算机断层扫描,血液测试,自身免疫性脑膜炎的研究和结核分枝杆菌没有改变。然后将患者转介给我们的儿科神经病学中心。脑电图(EEG)显示出明显的不对称性,左半球放慢(图由于他符合HM的临床标准,因此进行了2种FHM的遗传分析,显示Cacna1a,ATP1A2,SCN1A和PRRT2中未发生突变。在同一天,新的大脑和脊柱MRI揭示了弥漫性麻风动物的增强,主要涉及基底骨和后窝,以及沿脊髓和cauda equina;没有发现CSF流异常(图随后,进行了具有术中神经生理学监测的Cauda Equina活检。组织学和免疫组织化学检查显示,没有BRAF/KIAA1549重排的DLGNT。HM样症状在2周内逐渐愈合,只要脑电图归一化。首先采用了一种严格的监测方法,因为肿瘤的分级低以及类似HM样发作的零星和自限性。一种预防性疗法的氟氨基疗法
1 Fondazione Istituto Sacra Famiglia ONLUS, Cesano Boscone, 20090 Milan, Italy; lmoderato@sacrafamiglia.org 2 Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy; pierluigi.politi@unipv.it 3 IRCCS Fondazione Don Carlo Gnocchi, ONLUS, 20148 Milan, Italy; mario.clerici@unimi.it (M.C.); msaresella@dongnocchi.it (M.S.)4 DIMES, School of Medicine, University of Bologna, 40126 Bologna, Italy; provvidenza.abruzzo2@unibo.it (P.M.A.); alessandra.bolotta3@unibo.it (A.B.); andrea.stoccoro@unipi.it (A.S.) 18 Associazione Spazio Asperger ONLUS, Centro Clinico CuoreMenteLab, 00141 Rome, Italy; davide.moscone@cuorementelab.it 19新生儿护理室,外科科学系,普里森研究所和新生儿科,大学医院,意大利Cagliari 09100; mumike153@gmail.com(M.M.); vafanos@tin.it(v.f。)); a.ghezzo@fondazionedanelli.org (A.G.) 5 Division of Gastroenterology, Azienda Ospedaliero-Universitaria Citt à della Salute e della Scienza di Torino, University of Turin, 10126 Turin, Italy; federico.balzola@usa.net 6 Scientific Institute of Research and Care Multimedica, 20138 Milan, Italy; piermario.biava@gmail.com 7 Department of Pediatric Surgery, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy; marcobrunero@hotmail.it 8 ECERI—European Cancer and Environment Research Institute, Square de Meeus 38-40, 1000 Bruxelles, Belgium; eburg@libero.it 9 Dipartimento Materno Infantile ASST, 27100 Pavia, Italy; alberto_chiara@ass-pavia.it 10病理生理学与移植系,米兰大学,20122年米兰,意大利米兰11自闭症中心,自闭症,卡托利亚大学布雷西亚大学,20139年,意大利米兰; luigi.croce@unicatt.it 12 National Research Council of Italy, Institute of Organic Synthesis and Photoreactivity (ISOF), 40129 Bologna, Italy; carla.ferreri@isof.cnr.it 13 Irccs基金会CA'Granda Maggiore Policlinico医院的观察和妇科系,20122年,意大利米兰; niccologiovannini@hotmail.com 14 Autism Research Unit, Villa Santa Maria Foundation, 22038 Tavernerio, Italy; enzo.grossi51@gmail.com 15 Adult Autism Centre DSM ASL Citt à di Torino, 10138 Turin, Italy; rokel2003@libero.it 16 RAISE Lab, Foundation COME Collaboration, 65121 Pescara, Italy; manzotti.andrea68@gmail.com 17医学遗传学实验室,转化研究系以及新的手术和医疗技术,PISA大学,意大利PISA 56126; lucia.migliore@unipi.it (L.M.20儿童神经病学和精神病学部门,IRCCS ISNB,S。Orsola-Malpighi医院,博洛尼亚大学医学与外科科学系,意大利博洛尼亚40138; antonia.parmeggiani@unibo.it 21 Milan Institute for health Care and Advanced Learning, 20124 Milano, Italy; dott.pasinvalentina@gmail.com 22 Universit à Telematica Pegaso, 80134 Napoli, Italy; monicaperotti@virgilio.it 23 Department of Biomedical Sciences, University of Cagliari, 09042 Cagliari, Italy; cristina.piras@unica.it 24 Unione Italiana Lotta alla Distrofia Muscolare UILDM, 35100 Padova, Italy; tizianatoso@gmail.com博士25生物膜研究所,生物能学和分子生物技术(IBIOM),意大利国家研究委员会,意大利70126,意大利Bari; r.vacca@ibiom.cnr.it 26 Institute for Biomedical Research and Innovation (IRIB), National Research Council of Italy, 98164 Messina, Italy; david.vagni@irib.cnr.it 27 Department of Pediatric, Moscati Hospital, 81031Aversa, Italy; dotvendemmia@libero.it 28 Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, 23842 Bosisio Parini, Italy; laura.villa@lanostrafamiglia.it 29 Neonatal Intensive Care Unit, Azienda Ospedaliera Universitaria, 09042 Cagliari, Italy